Variant report

Variant	rs537487314
Chromosome Location	chr6:26458159-26458160
allele	C/G
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	TAF1	chr6:26458082-26458536	K562	blood:	n/a	n/a
2	POLR2A	chr6:26457732-26458496	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr6:26457809-26458439	HCT-116	colon:	n/a	n/a
4	RFX5	chr6:26457500-26458604	HepG2	liver:	n/a	chr6:26458073-26458081
5	POLR2A	chr6:26458018-26458617	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr6:26458054-26458344	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr6:26457415-26458654	H1-hESC	embryonic stem cell:	n/a	chr6:26458073-26458081
8	TAF1	chr6:26458030-26458319	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:26457531-26458968	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:26457926-26459108	GM12878	blood:	n/a	n/a
11	NFYA	chr6:26457975-26458379	K562	blood:	n/a	n/a
12	POLR2A	chr6:26458068-26458387	GM12891	blood:	n/a	n/a
13	RFX5	chr6:26457505-26458747	Hela-S3	cervix:	n/a	chr6:26458073-26458081
14	CHD2	chr6:26457951-26458277	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr6:26458036-26458578	GM12891	blood:	n/a	chr6:26458514-26458528 chr6:26458205-26458214 chr6:26458201-26458217 chr6:26458194-26458216 chr6:26458206-26458216
16	POLR2A	chr6:26457501-26458632	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr6:26458074-26458382	U87	brain:	n/a	n/a
18	POLR2A	chr6:26458052-26458361	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:26458080-26458968	MCF-7	breast:	n/a	n/a
20	RUNX3	chr6:26458016-26458629	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:26458020-26458659	K562	blood:	n/a	n/a
22	SMC3	chr6:26458144-26458345	HepG2	liver:	n/a	n/a
23	HEY1	chr6:26457711-26458361	HepG2	liver:	n/a	n/a
24	BHLHE40	chr6:26457962-26458226	HepG2	liver:	n/a	n/a
25	ELK1	chr6:26458027-26458296	Hela-S3	cervix:	n/a	n/a
26	WRNIP1	chr6:26458159-26458509	GM12878	blood:	n/a	n/a
27	TCF12	chr6:26457855-26458432	A549	lung:	n/a	n/a
28	SP1	chr6:26457826-26458289	A549	lung:	n/a	n/a
29	PML	chr6:26458116-26458371	GM12878	blood:	n/a	n/a
30	EBF1	chr6:26457873-26458573	GM12878	blood:	n/a	chr6:26458170-26458181 chr6:26457896-26457905 chr6:26457894-26457907
31	YY1	chr6:26458011-26458558	H1-hESC	embryonic stem cell:	n/a	chr6:26458514-26458528 chr6:26458205-26458214 chr6:26458201-26458217 chr6:26458194-26458216 chr6:26458206-26458216
32	RFX5	chr6:26457689-26458570	GM12878	blood:	n/a	chr6:26458073-26458081
33	RUNX3	chr6:26458001-26458699	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:26458064-26458391	IMR90	lung:	n/a	n/a
35	YY1	chr6:26457852-26458722	SK-N-SH	brain:	n/a	chr6:26458514-26458528 chr6:26458205-26458214 chr6:26458201-26458217 chr6:26458194-26458216 chr6:26458206-26458216
36	RAD21	chr6:26457775-26458318	HepG2	liver:	n/a	n/a
37	PML	chr6:26457802-26458632	GM12878	blood:	n/a	n/a
38	NFYB	chr6:26457988-26458347	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:26457928-26459145	GM12892	blood:	n/a	n/a
40	BHLHE40	chr6:26457911-26458325	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:26458134-26458263	A549	lung:	n/a	n/a
42	POLR2A	chr6:26458149-26458301	HepG2	liver:	n/a	n/a
43	STAT3	chr6:26458146-26458218	MCF10A-Er-Src	breast:	n/a	n/a
44	TAF1	chr6:26457748-26458617	PFSK-1	brain:	n/a	n/a
45	MYC	chr6:26458147-26458606	K562	blood:	n/a	n/a
46	CREB1	chr6:26457694-26458460	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr6:26458072-26458344	HepG2	liver:	n/a	n/a
48	YY1	chr6:26457771-26458588	SK-N-SH_RA	brain:	n/a	chr6:26458514-26458528 chr6:26458205-26458214 chr6:26458201-26458217 chr6:26458194-26458216 chr6:26458206-26458216
49	ELF1	chr6:26458004-26458640	K562	blood:	n/a	chr6:26458536-26458547
50	EBF1	chr6:26457991-26458327	GM12878	blood:	n/a	chr6:26458170-26458181

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26458121-26458171	LNCaP	prostate:	n/a
2	chr6:26458121-26458171	NT2-D1	testis:	n/a
3	chr6:26458121-26458171	SK-N-SH_RA	brain:	n/a
4	chr6:26458121-26458171	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:26458121-26458171	HMEC	breast:	n/a
6	chr6:26458121-26458171	HCM	heart:	n/a
7	chr6:26458121-26458171	ECC-1	luminal epithelium:	n/a
8	chr6:26458121-26458171	AG10803	skin:	n/a
9	chr6:26458121-26458171	NHBE	bronchial:	n/a
10	chr6:26458121-26458171	HRPEpiC	eye:	n/a
11	chr6:26458121-26458171	SK-N-SH	brain:	n/a
12	chr6:26458121-26458171	Hepatocyte	liver:	n/a
13	chr6:26458121-26458171	MCF10A-Er-Src	breast:	n/a
14	chr6:26458121-26458171	HCPEpiC	choroid plexus:	n/a
15	chr6:26458121-26458171	T-47D	breast:	n/a
16	chr6:26458121-26458171	GM06990	blood:	n/a
17	chr6:26458121-26458171	BJ	skin:	n/a
18	chr6:26458121-26458171	PFSK-1	brain:	n/a
19	chr6:26458121-26458171	PrEC	prostate:	n/a
20	chr6:26458121-26458171	CMK	blood:	n/a
21	chr6:26458121-26458171	A549	lung:	n/a
22	chr6:26458121-26458171	HEK293	kidney:	embryo
23	chr6:26458121-26458171	HAEpiC	amniotic membrane:	n/a
24	chr6:26458121-26458171	NB4	blood:	n/a
25	chr6:26458121-26458171	GM12891	blood:	n/a
26	chr6:26458121-26458171	SAEC	small airway:	n/a
27	chr6:26458121-26458171	HUVEC	blood vessel:	n/a
28	chr6:26458121-26458171	GM12892	blood:	n/a
29	chr6:26458121-26458171	ovcar-3	ovarian:	n/a
30	chr6:26458121-26458171	HRE	kidney:	n/a
31	chr6:26458121-26458171	HepG2	liver:	n/a
32	chr6:26458121-26458171	HEEpiC	esophagus:	n/a
33	chr6:26458121-26458171	SKMC	muscle:	n/a
34	chr6:26458121-26458171	H1-hESC	embryonic stem cell:	embryo
35	chr6:26458121-26458171	PANC-1	pancreas:	n/a
36	chr6:26458121-26458171	HIPEpiC	eye:	n/a
37	chr6:26458121-26458171	AG09309	skin:	n/a
38	chr6:26458121-26458171	K562	blood:	n/a
39	chr6:26458121-26458171	AG04450	lung:	fetal
40	chr6:26458121-26458171	GM12878	blood:	n/a
41	chr6:26458121-26458171	U87	brain:	n/a
42	chr6:26458121-26458171	IMR90	lung:	fetal
43	chr6:26458121-26458171	MCF-7	breast:	n/a
44	chr6:26458121-26458171	RPTEC	kidney:	n/a
45	chr6:26458121-26458171	NH-A	brain:	n/a
46	chr6:26458121-26458171	AoSMC	blood vessel:	n/a
47	chr6:26458121-26458171	BE2_C	brain:	n/a
48	chr6:26458121-26458171	Hela-S3	cervix:	n/a
49	chr6:26458121-26458171	HL-60	blood:	n/a
50	chr6:26458121-26458171	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62609075..62609632-chr6:26457866..26458649,2	NB4	blood:
2	chr6:26449553..26453974-chr6:26454911..26459271,5	K562	blood:
3	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:
4	chr6:26158231..26160273-chr6:26456660..26458707,2	K562	blood:

Variant related genes	Relation type
BTN2A1	TF binding region
BTN2A1	CpG island
ENSG00000199289	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	esv2763996	chr6:26423901-26465384	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1017824	chr6:26425410-26465384	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1030289	chr6:26428314-26464017	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
10	nsv1033003	chr6:26428314-26465384	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1031229	chr6:26428314-26467182	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1031238	chr6:26428314-26471596	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
13	nsv1024483	chr6:26429262-26465384	Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1034561	chr6:26429262-26467182	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv528172	chr6:26430981-26463660	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
16	nsv1029357	chr6:26432815-26464789	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1023581	chr6:26432815-26465384	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	nsv1024222	chr6:26432815-26467182	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	nsv1022309	chr6:26434914-26464789	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
20	nsv601185	chr6:26455811-26465384	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	nsv965689	chr6:26457033-26469487	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26446400-26458200	Weak transcription	Gastric	stomach
2	chr6:26450800-26458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26456400-26458200	Weak transcription	Lung	lung
4	chr6:26457600-26458200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:26457600-26459000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:26457600-26459200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:26457600-26459200	Active TSS	Primary T cells from cord blood	blood
8	chr6:26457600-26459200	Active TSS	A549	lung
9	chr6:26457600-26459400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:26457600-26459400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:26457600-26459400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:26457600-26459400	Active TSS	Fetal Brain Female	brain
13	chr6:26457600-26459400	Active TSS	Fetal Kidney	kidney
14	chr6:26457600-26460400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:26457800-26458600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:26457800-26458600	Bivalent/Poised TSS	HepG2	liver
17	chr6:26457800-26458800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:26457800-26458800	Active TSS	Liver	Liver
19	chr6:26457800-26458800	Active TSS	Small Intestine	intestine
20	chr6:26457800-26459000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:26457800-26459000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:26457800-26459000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:26457800-26459000	Active TSS	Brain Anterior Caudate	brain
24	chr6:26457800-26459000	Active TSS	Duodenum Mucosa	Duodenum
25	chr6:26457800-26459000	Active TSS	Pancreas	Pancrea
26	chr6:26457800-26459000	Active TSS	Spleen	Spleen
27	chr6:26457800-26459200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr6:26457800-26459200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:26457800-26459200	Active TSS	Brain Substantia Nigra	brain
30	chr6:26457800-26459200	Active TSS	Fetal Intestine Small	intestine
31	chr6:26457800-26459200	Active TSS	Fetal Stomach	stomach
32	chr6:26457800-26459200	Active TSS	Ovary	ovary
33	chr6:26457800-26459200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:26457800-26459200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr6:26457800-26459200	Active TSS	Thymus	Thymus
36	chr6:26457800-26459400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:26457800-26459400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:26457800-26459400	Active TSS	Brain Angular Gyrus	brain
39	chr6:26457800-26459400	Active TSS	Brain Hippocampus Middle	brain
40	chr6:26457800-26459400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:26457800-26459400	Active TSS	Colonic Mucosa	Colon
42	chr6:26457800-26459400	Active TSS	Esophagus	oesophagus
43	chr6:26457800-26459400	Active TSS	Fetal Intestine Large	intestine
44	chr6:26457800-26459400	Active TSS	Left Ventricle	heart
45	chr6:26457800-26459400	Active TSS	Psoas Muscle	Psoas
46	chr6:26457800-26459400	Active TSS	Right Atrium	heart
47	chr6:26457800-26459400	Active TSS	Right Ventricle	heart
48	chr6:26457800-26459400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr6:26457800-26459600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:26457800-26459600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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