Variant report

Variant	rs6682260
Chromosome Location	chr1:228351087-228351088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZKSCAN1	chr1:228350370-228351181	Hela-S3	cervix:	n/a	n/a
2	TFAP2C	chr1:228350071-228351707	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:228350764-228354251	HepG2	liver:	n/a	n/a
4	MAZ	chr1:228350641-228351192	IMR90	lung:	n/a	n/a
5	MAZ	chr1:228350441-228351167	Hela-S3	cervix:	n/a	n/a
6	MAX	chr1:228350370-228351196	Hela-S3	cervix:	n/a	n/a
7	MYC	chr1:228350404-228351108	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:228350809-228351114	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:228350272-228354541	Hela-S3	cervix:	n/a	n/a
10	SMC3	chr1:228350513-228351156	Hela-S3	cervix:	n/a	chr1:228350679-228350693
11	POLR2A	chr1:228349082-228351793	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:228350765-228351230	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr1:228350742-228351117	A549	lung:	n/a	n/a
14	ZNF143	chr1:228350264-228351148	Hela-S3	cervix:	n/a	chr1:228350501-228350519
15	POLR2A	chr1:228350339-228351261	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:228350098-228351442	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr1:228350791-228351445	Hela-S3	cervix:	n/a	chr1:228351310-228351321
18	POLR2A	chr1:228348937-228354538	MCF10A-Er-Src	breast:	n/a	n/a
19	GTF2F1	chr1:228350393-228351414	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:228350508-228351329	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr1:228349847-228354537	MCF10A-Er-Src	breast:	n/a	n/a
22	RCOR1	chr1:228350121-228351093	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:228350202-228351194	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:228349982-228351502	HUVEC	blood vessel:	n/a	n/a
25	TFAP2A	chr1:228350071-228351899	Hela-S3	cervix:	n/a	chr1:228350324-228350338 chr1:228350943-228350954 chr1:228351337-228351349 chr1:228350755-228350763 chr1:228350943-228350954 chr1:228351337-228351349 chr1:228350755-228350763 chr1:228351337-228351349 chr1:228350942-228350957 chr1:228350944-228350952 chr1:228350944-228350952 chr1:228350324-228350338 chr1:228350755-228350763 chr1:228351337-228351351 chr1:228350324-228350338 chr1:228351337-228351349 chr1:228350944-228350952
26	POLR2A	chr1:228349182-228354536	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:228350260-228351413	HUVEC	blood vessel:	n/a	n/a
28	RFX5	chr1:228350385-228351142	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:228350040-228351169	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:228350027-228351165	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:228349187-228351129	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr1:228349204-228352644	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228349005..228351267-chr1:228399085..228402017,2	MCF-7	breast:
2	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
3	chr1:228349528..228352253-chr1:228378425..228381248,2	MCF-7	breast:
4	chr1:228350672..228351362-chr5:126113052..126113921,2	Hela-S3	cervix:
5	chr1:228350980..228355955-chr1:228356979..228359321,5	MCF-7	breast:

Variant related genes	Relation type
IBA57	TF binding region
ENSG00000162913	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000113368	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1059778	0.84[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs10753445	0.84[CEU][hapmap];0.85[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs10799468	0.84[EUR][1000 genomes]
rs10916268	0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs10916271	0.84[EUR][1000 genomes]
rs10916277	0.91[EUR][1000 genomes]
rs11584385	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs12084338	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12097591	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12130630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134624	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564763	0.92[TSI][hapmap]
rs12745416	0.84[CEU][hapmap]
rs1411910	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs1411911	0.83[EUR][1000 genomes]
rs1557026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1620111	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs1629294	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1757132	0.84[CEU][hapmap]
rs1757133	0.84[CEU][hapmap]
rs1757139	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1757147	0.84[CEU][hapmap]
rs1757149	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1757150	0.84[CEU][hapmap]
rs1757152	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1757156	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs17623766	0.92[EUR][1000 genomes]
rs17640616	1.00[CEU][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs1771459	0.84[CEU][hapmap]
rs1771460	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1771461	0.83[CEU][hapmap]
rs1771462	0.83[CEU][hapmap]
rs1771467	0.84[CEU][hapmap]
rs1771472	0.83[CEU][hapmap]
rs1771474	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs1771476	0.84[CEU][hapmap]
rs1771479	0.84[CEU][hapmap]
rs1771482	0.84[CEU][hapmap]
rs1771483	0.84[CEU][hapmap]
rs1771484	0.91[CEU][hapmap]
rs1771485	0.84[CEU][hapmap]
rs1771487	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs2066237	0.84[CEU][hapmap];0.95[TSI][hapmap]
rs2185544	0.82[EUR][1000 genomes]
rs2298014	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2313600	0.92[EUR][1000 genomes]
rs2313601	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs2313602	0.84[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs2776855	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs2776856	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs28634124	0.82[ASN][1000 genomes]
rs2872538	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs3845621	0.84[YRI][hapmap]
rs4653536	0.85[EUR][1000 genomes]
rs4653907	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4653915	0.83[EUR][1000 genomes]
rs4653917	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653919	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653920	0.97[EUR][1000 genomes]
rs4653921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55658545	0.85[EUR][1000 genomes]
rs55873533	0.97[EUR][1000 genomes]
rs61825279	0.80[EUR][1000 genomes]
rs6426492	0.96[CEU][hapmap];0.89[GIH][hapmap];0.97[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6657968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6661539	0.83[EUR][1000 genomes]
rs6673893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704220	0.90[LWK][hapmap];0.90[YRI][hapmap]
rs708123	0.86[YRI][hapmap]
rs72757811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72757812	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72757824	0.94[EUR][1000 genomes]
rs72757827	0.94[EUR][1000 genomes]
rs72757829	0.87[EUR][1000 genomes]
rs7512209	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs752107	0.82[ASW][hapmap];0.83[GIH][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap]
rs7523917	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs7532141	0.82[EUR][1000 genomes]
rs7532924	0.84[CEU][hapmap]
rs7537636	0.84[CEU][hapmap];0.92[TSI][hapmap]
rs7539762	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs766972	0.83[ASW][hapmap];0.80[GIH][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs822725	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs849749	0.83[GIH][hapmap];0.85[LWK][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs947087	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs9728319	0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
10	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
11	nsv549288	chr1:228327659-228363750	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
13	nsv873258	chr1:228334088-228359775	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
14	nsv873259	chr1:228334277-228359775	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
16	nsv873261	chr1:228338939-228359775	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
17	nsv873262	chr1:228340653-228371098	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
19	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6682260	OBSCN	cis	Skin Sun Exposed Lower leg	GTEx
rs6682260	WDR26	cis	cerebellum	SCAN
rs6682260	ITPKB	cis	cerebellum	SCAN
rs6682260	OBSCN	cis	Esophagus Mucosa	GTEx
rs6682260	IBA57	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228338200-228352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:228339400-228352600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:228343400-228352400	Weak transcription	A549	lung
4	chr1:228344200-228352200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:228345800-228351400	Enhancers	Esophagus	oesophagus
6	chr1:228348600-228352600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:228348600-228352800	Enhancers	Fetal Thymus	thymus
8	chr1:228348600-228352800	Enhancers	Lung	lung
9	chr1:228348800-228351800	Enhancers	Fetal Intestine Large	intestine
10	chr1:228349000-228351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr1:228349000-228351200	Enhancers	NHLF	lung
12	chr1:228349000-228351600	Enhancers	Gastric	stomach
13	chr1:228349000-228352200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr1:228349000-228352800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:228349000-228352800	Enhancers	Placenta	Placenta
16	chr1:228349200-228351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:228349200-228351400	Enhancers	HSMM	muscle
18	chr1:228349200-228351600	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:228349200-228351600	Enhancers	Fetal Heart	heart
20	chr1:228349200-228352800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:228349200-228352800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:228349200-228352800	Enhancers	Pancreas	Pancrea
23	chr1:228349200-228352800	Enhancers	Right Ventricle	heart
24	chr1:228349200-228352800	Enhancers	HMEC	breast
25	chr1:228349200-228352800	Enhancers	HUVEC	blood vessel
26	chr1:228349400-228351200	Enhancers	Primary T cells from cord blood	blood
27	chr1:228349400-228351400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:228349400-228351600	Enhancers	HSMMtube	muscle
29	chr1:228349400-228352600	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:228349600-228351200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:228349600-228351600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:228349600-228351800	Enhancers	Fetal Intestine Small	intestine
33	chr1:228349600-228352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:228349600-228352800	Enhancers	Psoas Muscle	Psoas
35	chr1:228349600-228352800	Enhancers	Spleen	Spleen
36	chr1:228349800-228351200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:228349800-228351200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:228349800-228351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:228349800-228351200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:228349800-228351400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:228350000-228351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:228350000-228351200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr1:228350000-228351400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr1:228350000-228351600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:228350000-228351600	Enhancers	NH-A	brain
46	chr1:228350000-228351800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:228350000-228351800	Flanking Active TSS	NHEK	skin
48	chr1:228350000-228352200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:228350200-228351200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:228350200-228351200	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links