Variant report

Variant	rs6694214
Chromosome Location	chr1:223973368-223973369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223970124..223971708-chr1:223972032..223973610,2	K562	blood:
2	chr1:223962795..223965332-chr1:223971942..223974529,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1003061	0.83[ASN][1000 genomes]
rs1153927	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153929	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153930	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153933	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153934	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153936	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1153937	0.89[EUR][1000 genomes]
rs1153938	0.89[EUR][1000 genomes]
rs1153943	0.98[EUR][1000 genomes]
rs1153947	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153949	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153971	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153973	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222120	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1222121	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1222124	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222128	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1222146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1222156	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1621129	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1629850	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16842270	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16842294	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16842321	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1981171	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1982610	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1982612	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1982613	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242188	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28370163	0.92[EUR][1000 genomes]
rs28370164	0.92[EUR][1000 genomes]
rs28370167	0.92[EUR][1000 genomes]
rs28370172	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738370	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767709	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820475	0.81[EUR][1000 genomes]
rs4653457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329085	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56918361	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59104475	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59196624	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60131749	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60164080	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60739082	0.82[ASN][1000 genomes]
rs6661816	0.84[ASN][1000 genomes]
rs6675712	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687003	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72749554	0.87[EUR][1000 genomes]
rs72749569	0.90[EUR][1000 genomes]
rs72749588	0.85[ASN][1000 genomes]
rs737066	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs750873	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7536779	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898878	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223956800-223974200	Strong transcription	Primary T cells from cord blood	blood
4	chr1:223956800-223974200	Strong transcription	Liver	Liver
5	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:223959800-223977600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
8	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:223960600-223986800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:223960600-223995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:223960800-223995400	Weak transcription	GM12878-XiMat	blood
13	chr1:223961800-223977200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:223962000-223975000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:223962600-223983600	Weak transcription	Psoas Muscle	Psoas
17	chr1:223963400-223983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:223964000-223985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:223964200-223974200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:223964200-223980000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:223964400-223977200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:223964400-223979600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:223964600-223976800	Weak transcription	Stomach Mucosa	stomach
25	chr1:223964600-223977000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:223965000-223973400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:223965400-223974200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:223965400-223977200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:223965400-223983800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:223966400-223976200	Weak transcription	NHEK	skin
31	chr1:223966600-223983600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:223967800-223979800	Weak transcription	Fetal Brain Male	brain
33	chr1:223968400-223979800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:223968400-223984000	Weak transcription	Colonic Mucosa	Colon
35	chr1:223968600-223983000	Weak transcription	Small Intestine	intestine
36	chr1:223968800-223976000	Weak transcription	Hela-S3	cervix
37	chr1:223969000-223983400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:223969200-223973800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:223969200-223975400	Weak transcription	Brain Germinal Matrix	brain
40	chr1:223969200-223983400	Weak transcription	HepG2	liver
41	chr1:223969800-223974400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:223969800-223995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:223970000-223975000	Strong transcription	Fetal Brain Female	brain
44	chr1:223970000-223995200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:223970200-223977400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:223970200-223977400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:223970400-223975800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:223970600-223976200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:223970600-223982000	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:223970600-223990400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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