Variant report

Variant	rs17191153
Chromosome Location	chr6:31170947-31170948
allele	C/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	STAT5A	chr6:31170460-31172213	GM12878	blood:	n/a	n/a
2	SP1	chr6:31170355-31172163	HCT-116	colon:	n/a	n/a
3	SIN3AK20	chr6:31170852-31171761	MCF-7	breast:	n/a	n/a
4	IKZF1	chr6:31170511-31171702	GM12878	blood:	n/a	n/a
5	FOS	chr6:31170556-31172022	MCF10A-Er-Src	breast:	n/a	chr6:31171835-31171846
6	POLR2A	chr6:31169816-31173081	GM12878	blood:	n/a	n/a
7	JUND	chr6:31170865-31171657	T-47D	breast:	n/a	n/a
8	NFATC1	chr6:31170913-31172208	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:31169751-31170978	HL-60	blood:	n/a	n/a
10	JUND	chr6:31170849-31172241	T-47D	breast:	n/a	chr6:31171835-31171846
11	ATF2	chr6:31170523-31172244	GM12878	blood:	n/a	n/a
12	FOXA1	chr6:31170942-31171694	HepG2	liver:	n/a	chr6:31171248-31171263
13	POLR2A	chr6:31170084-31170949	GM12892	blood:	n/a	n/a
14	MTA3	chr6:31170430-31172320	GM12878	blood:	n/a	n/a
15	EP300	chr6:31170907-31172082	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr6:31170877-31172339	GM12878	blood:	n/a	n/a
17	CHD1	chr6:31170864-31172139	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:31169890-31172142	GM12892	blood:	n/a	n/a
19	FOSL1	chr6:31170886-31172139	HCT-116	colon:	n/a	n/a
20	PAX5	chr6:31170704-31170995	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:31170821-31172143	GM12878	blood:	n/a	n/a
22	JUND	chr6:31170926-31171533	MCF-7	breast:	n/a	n/a
23	STAT3	chr6:31170854-31172177	GM12878	blood:	n/a	n/a
24	ATF2	chr6:31170923-31172208	GM12878	blood:	n/a	n/a
25	RUNX3	chr6:31170450-31172207	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:31170430-31172244	HL-60	blood:	n/a	n/a
27	EBF1	chr6:31170907-31172242	GM12878	blood:	n/a	n/a
28	FOXM1	chr6:31170930-31172254	GM12878	blood:	n/a	n/a
29	RUNX3	chr6:31170507-31171000	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr6:31170637-31172237	GM12878	blood:	n/a	n/a
31	CREB1	chr6:31170946-31172241	GM12878	blood:	n/a	n/a
32	NFIC	chr6:31170612-31172372	GM12878	blood:	n/a	n/a
33	IRF4	chr6:31170892-31171649	GM12878	blood:	n/a	n/a
34	PML	chr6:31170665-31172258	GM12878	blood:	n/a	n/a
35	EP300	chr6:31170804-31172161	GM12878	blood:	n/a	n/a
36	FOSL2	chr6:31170933-31172129	HepG2	liver:	n/a	n/a
37	JUND	chr6:31170061-31172198	GM12878	blood:	n/a	chr6:31171835-31171846
38	MTA3	chr6:31170906-31171387	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:31170534-31172299	GM12878	blood:	n/a	n/a
40	JUND	chr6:31170339-31172236	HCT-116	colon:	n/a	chr6:31171835-31171846
41	RELA	chr6:31170734-31172100	GM15510	blood:	n/a	n/a
42	JUND	chr6:31170454-31172203	HCT-116	colon:	n/a	chr6:31171835-31171846
43	FOS	chr6:31170548-31172096	MCF10A-Er-Src	breast:	n/a	chr6:31171835-31171846
44	CHD2	chr6:31170606-31172153	GM12878	blood:	n/a	n/a
45	CUX1	chr6:31170639-31172162	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:31170932-31172189	GM12878	blood:	n/a	n/a
47	FOS	chr6:31170829-31172146	HUVEC	blood vessel:	n/a	chr6:31171835-31171846
48	RELA	chr6:31170667-31172112	GM10847	blood:	n/a	n/a
49	SRF	chr6:31170228-31172236	HCT-116	colon:	n/a	n/a
50	SRF	chr6:31170223-31172386	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31169826..31173428-chr6:31237952..31240385,5	MCF-7	breast:
2	chr6:31163991..31166829-chr6:31169984..31172636,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCF19-1	chr6:31170149-31170999	XLOC_005244
2	lnc-TCF19-1	chr6:31170779-31171887	XLOC_005244

Variant related genes	Relation type
ENSG00000271821	TF binding region
ENSG00000204525	Chromatin interaction
ENSG00000206344	Chromatin interaction
ENSG00000272501	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55803249	1.00[ASN][1000 genomes]
rs55893378	0.90[AMR][1000 genomes]
rs56194989	0.90[AMR][1000 genomes]
rs59810420	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59847960	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388867	1.00[ASN][1000 genomes]
rs73399045	1.00[ASN][1000 genomes]
rs73401031	1.00[ASN][1000 genomes]
rs73401062	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405036	0.90[AMR][1000 genomes]
rs73728280	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73728416	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73728438	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746123	0.90[AMR][1000 genomes]
rs7762578	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9263861	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv1019637	chr6:31104401-31354706	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
12	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
13	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
14	nsv1034391	chr6:31131121-31279595	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv1025909	chr6:31131121-31354706	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
16	nsv538175	chr6:31131121-31354706	Active TSS Bivalent Enhancer Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
17	nsv1015890	chr6:31131121-31449207	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
18	nsv538176	chr6:31131121-31449207	Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
19	esv32635	chr6:31141504-31250618	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv1024887	chr6:31162849-31354706	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv538177	chr6:31162849-31354706	Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
22	nsv1015903	chr6:31162849-31412740	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
23	nsv538178	chr6:31162849-31412740	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
24	nsv1031682	chr6:31162849-31449207	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
25	nsv538179	chr6:31162849-31449207	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers 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	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31166200-31171000	Weak transcription	HSMMtube	muscle
2	chr6:31166200-31171000	Weak transcription	Osteobl	bone
3	chr6:31166200-31171200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:31166200-31171200	Weak transcription	Fetal Lung	lung
5	chr6:31166200-31171600	Weak transcription	Brain Substantia Nigra	brain
6	chr6:31166200-31171600	Weak transcription	Ovary	ovary
7	chr6:31166200-31171800	Weak transcription	Aorta	Aorta
8	chr6:31166200-31171800	Weak transcription	Fetal Brain Male	brain
9	chr6:31166200-31172400	Weak transcription	Gastric	stomach
10	chr6:31166600-31171200	Weak transcription	HSMM	muscle
11	chr6:31166800-31171200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:31166800-31171200	Weak transcription	NHDF-Ad	bronchial
13	chr6:31166800-31171400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:31166800-31171400	Weak transcription	Left Ventricle	heart
15	chr6:31167000-31171400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:31169000-31171400	Enhancers	Pancreas	Pancrea
17	chr6:31169200-31171200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:31169200-31171200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:31169200-31171400	Weak transcription	Fetal Stomach	stomach
20	chr6:31169200-31171400	Enhancers	Stomach Mucosa	stomach
21	chr6:31169400-31171200	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:31169600-31172800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr6:31169600-31173000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:31169800-31171000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr6:31169800-31171200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr6:31169800-31171200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:31169800-31171200	Enhancers	HMEC	breast
28	chr6:31169800-31171200	Enhancers	K562	blood
29	chr6:31169800-31171400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:31169800-31171400	Enhancers	Fetal Intestine Large	intestine
31	chr6:31169800-31171400	Enhancers	Fetal Intestine Small	intestine
32	chr6:31169800-31171400	Enhancers	Fetal Thymus	thymus
33	chr6:31169800-31171400	Enhancers	Right Atrium	heart
34	chr6:31169800-31171400	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:31169800-31171600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:31169800-31171600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:31169800-31171600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:31169800-31171600	Enhancers	Lung	lung
39	chr6:31169800-31171800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:31169800-31171800	Flanking Active TSS	Hela-S3	cervix
41	chr6:31169800-31171800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:31169800-31172200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:31169800-31173000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr6:31170000-31171000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:31170000-31171200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:31170000-31171200	Enhancers	HUVEC	blood vessel
47	chr6:31170000-31171400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:31170000-31171400	Enhancers	Primary T cells from cord blood	blood
49	chr6:31170000-31171400	Enhancers	NHLF	lung
50	chr6:31170000-31171600	Enhancers	H1 Cell Line	embryonic stem cell

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