Variant report

Variant	rs151949
Chromosome Location	chr5:96143845-96143846
allele	A/C/G/T
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	POLR2A	chr5:96142785-96144905	K562	blood:	n/a	n/a
2	POLR2A	chr5:96143346-96144497	GM12878	blood:	n/a	n/a
3	NFYA	chr5:96143694-96144908	K562	blood:	n/a	n/a
4	TAF1	chr5:96142956-96144219	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZBTB7A	chr5:96143540-96143917	K562	blood:	n/a	n/a
6	CHD1	chr5:96143623-96143994	H1-hESC	embryonic stem cell:	n/a	n/a
7	PRDM1	chr5:96143445-96144192	Hela-S3	cervix:	n/a	chr5:96143636-96143649 chr5:96143789-96143802 chr5:96143635-96143650 chr5:96143640-96143649 chr5:96143636-96143650
8	TAF1	chr5:96142879-96144400	K562	blood:	n/a	n/a
9	REST	chr5:96143592-96144239	PFSK-1	brain:	n/a	chr5:96143654-96143664 chr5:96143729-96143739 chr5:96143812-96143825 chr5:96143649-96143662
10	RCOR1	chr5:96142754-96144427	K562	blood:	n/a	n/a
11	POLR2A	chr5:96142867-96144573	GM12878	blood:	n/a	n/a
12	TAF1	chr5:96143051-96144457	K562	blood:	n/a	n/a
13	SIN3A	chr5:96143500-96144066	GM12878	blood:	n/a	chr5:96143668-96143677 chr5:96143652-96143665
14	POLR2A	chr5:96143396-96144453	GM12892	blood:	n/a	n/a
15	TCF12	chr5:96142843-96144346	ECC-1	luminal epithelium:	n/a	chr5:96143106-96143113 chr5:96144220-96144227
16	CHD2	chr5:96143598-96144273	HepG2	liver:	n/a	n/a
17	MAX	chr5:96142802-96144286	HepG2	liver:	n/a	chr5:96143251-96143260
18	POLR2A	chr5:96143190-96144424	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:96142946-96144464	GM19193	blood:	n/a	n/a
20	MAFK	chr5:96143666-96144453	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr5:96143309-96144400	GM12878	blood:	n/a	n/a
22	ELK1	chr5:96143642-96144368	GM12878	blood:	n/a	n/a
23	ZEB1	chr5:96143362-96143847	GM12878	blood:	n/a	n/a
24	CEBPB	chr5:96143679-96144595	Hela-S3	cervix:	n/a	n/a
25	E2F4	chr5:96142933-96144352	K562	blood:	n/a	chr5:96143294-96143303
26	POLR2A	chr5:96143398-96144444	K562	blood:	n/a	n/a
27	POLR2A	chr5:96142929-96144479	U87	brain:	n/a	n/a
28	SIN3AK20	chr5:96143647-96144217	A549	lung:	n/a	n/a
29	TBP	chr5:96142735-96144735	K562	blood:	n/a	n/a
30	PAX5	chr5:96143107-96144359	GM12878	blood:	n/a	chr5:96143637-96143646
31	REST	chr5:96143529-96144605	A549	lung:	n/a	chr5:96143654-96143664 chr5:96143729-96143739 chr5:96143812-96143825 chr5:96143649-96143662
32	CTCF	chr5:96143700-96143850	HPF	lung:	n/a	n/a
33	TCF7L2	chr5:96143594-96143986	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr5:96142710-96144532	PBDE	blood:	n/a	n/a
35	MAZ	chr5:96142631-96144551	IMR90	lung:	n/a	chr5:96143251-96143260
36	SPI1	chr5:96143765-96143879	K562	blood:	n/a	chr5:96143854-96143867
37	BRCA1	chr5:96143694-96143894	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:96142748-96144433	K562	blood:	n/a	n/a
39	POLR2A	chr5:96142942-96144385	ProgFib	skin:	n/a	n/a
40	RCOR1	chr5:96143503-96144368	HepG2	liver:	n/a	n/a
41	YY1	chr5:96143445-96143879	GM12891	blood:	n/a	chr5:96143592-96143601 chr5:96143702-96143713
42	YY1	chr5:96143398-96144277	H1-hESC	embryonic stem cell:	n/a	chr5:96143592-96143601 chr5:96143702-96143713
43	SP1	chr5:96143441-96144391	GM12878	blood:	n/a	n/a
44	BCL3	chr5:96143446-96144405	A549	lung:	n/a	chr5:96143591-96143600 chr5:96143711-96143720 chr5:96143637-96143646
45	CHD2	chr5:96143616-96144335	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr5:96142972-96143876	K562	blood:	n/a	chr5:96143592-96143601 chr5:96143294-96143303 chr5:96143702-96143713
47	CTCF	chr5:96143700-96143850	SK-N-SH_RA	brain:	n/a	n/a
48	POLR2A	chr5:96143329-96144474	K562	blood:	n/a	n/a
49	POLR2A	chr5:96143020-96144451	HEK293	kidney:	n/a	n/a
50	POLR2A	chr5:96142805-96144496	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96142588..96144739-chr5:96517628..96519299,2	MCF-7	breast:
2	chr5:96029641..96031366-chr5:96142667..96144230,2	MCF-7	breast:
3	chr5:96121088..96123332-chr5:96141994..96144285,2	MCF-7	breast:
4	chr5:96127204..96132361-chr5:96142290..96145057,7	MCF-7	breast:
5	chr5:96143815..96145603-chr5:96340222..96341890,2	K562	blood:
6	chr5:96142348..96143873-chr5:96516638..96519268,2	K562	blood:
7	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
8	chr5:96143640..96144362-chr5:96270389..96271299,2	MCF-7	breast:
9	chr12:7052748..7053440-chr5:96143560..96144101,2	NB4	blood:
10	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
11	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
12	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
13	chr5:96140726..96144602-chr5:96269258..96273227,6	MCF-7	breast:
14	chr5:96125291..96127024-chr5:96141559..96143883,2	K562	blood:
15	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
16	chr5:96142551..96144780-chr5:96277248..96279292,2	MCF-7	breast:
17	chr5:96114800..96117147-chr5:96142659..96144390,2	MCF-7	breast:
18	chr12:49524515..49525072-chr5:96143647..96144215,2	Hela-S3	cervix:
19	chr5:96078034..96080894-chr5:96142161..96145119,2	K562	blood:

Variant related genes	Relation type
ERAP1	TF binding region
ENSG00000258017	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000227836	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000058729	Chromatin interaction
ENSG00000264129	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000249180	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000164308	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12652636	0.82[ASN][1000 genomes]
rs151928	0.81[ASN][1000 genomes]
rs18036	0.90[ASN][1000 genomes]
rs245478	0.87[ASN][1000 genomes]
rs26613	0.86[ASN][1000 genomes]
rs26614	0.86[ASN][1000 genomes]
rs26615	0.86[ASN][1000 genomes]
rs26616	0.85[ASN][1000 genomes]
rs26617	0.85[ASN][1000 genomes]
rs26618	0.85[ASN][1000 genomes]
rs26652	0.86[ASN][1000 genomes]
rs26657	0.97[ASN][1000 genomes]
rs27543	0.86[ASN][1000 genomes]
rs27778	0.93[ASN][1000 genomes]
rs28048	0.86[ASN][1000 genomes]
rs28049	0.87[ASN][1000 genomes]
rs28050	0.97[ASN][1000 genomes]
rs34758	0.92[ASN][1000 genomes]
rs67888194	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96142000-96144200	Active TSS	NHDF-Ad	bronchial
2	chr5:96142200-96144200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:96142200-96144200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:96142200-96144200	Active TSS	K562	blood
5	chr5:96142200-96144600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:96142400-96144000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:96142400-96144200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:96142400-96144200	Active TSS	Primary T cells from cord blood	blood
9	chr5:96142400-96144200	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr5:96142400-96144200	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:96142400-96144200	Active TSS	Brain Anterior Caudate	brain
12	chr5:96142400-96144200	Active TSS	Fetal Intestine Small	intestine
13	chr5:96142400-96144200	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr5:96142400-96144200	Active TSS	GM12878-XiMat	blood
15	chr5:96142400-96144400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr5:96142400-96144400	Active TSS	Thymus	Thymus
17	chr5:96142400-96144600	Active TSS	Duodenum Mucosa	Duodenum
18	chr5:96142400-96144800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:96142600-96144200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:96142600-96144200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:96142600-96144200	Active TSS	Placenta	Placenta
22	chr5:96142600-96144200	Active TSS	Fetal Thymus	thymus
23	chr5:96142600-96144200	Active TSS	Osteobl	bone
24	chr5:96142600-96144400	Active TSS	Right Atrium	heart
25	chr5:96142600-96144600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:96142600-96144600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:96142600-96144600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:96142600-96144600	Active TSS	Colonic Mucosa	Colon
29	chr5:96142800-96144000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:96142800-96144000	Active TSS	Dnd41	blood
31	chr5:96142800-96144200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:96142800-96144200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:96142800-96144200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:96142800-96144200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:96142800-96144200	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr5:96142800-96144200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:96142800-96144200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:96142800-96144200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:96142800-96144200	Active TSS	Fetal Intestine Large	intestine
40	chr5:96142800-96144200	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:96142800-96144200	Active TSS	Spleen	Spleen
42	chr5:96142800-96144400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:96142800-96144400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:96142800-96144400	Active TSS	Brain Germinal Matrix	brain
45	chr5:96142800-96144400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:96142800-96144400	Active TSS	Esophagus	oesophagus
47	chr5:96142800-96144400	Active TSS	Gastric	stomach
48	chr5:96142800-96144400	Active TSS	Left Ventricle	heart
49	chr5:96142800-96144400	Active TSS	Lung	lung
50	chr5:96142800-96144400	Active TSS	Ovary	ovary

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