Variant report

Variant	rs17472098
Chromosome Location	chr7:27197088-27197089
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	POLR2A	chr7:27194513-27197277	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr7:27196695-27197119	SK-N-MC	brain:	n/a	n/a
3	SUZ12	chr7:27192795-27199379	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXP2	chr7:27196631-27197141	SK-N-MC	brain:	n/a	n/a
5	CTBP2	chr7:27197035-27197869	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:27194531-27197239	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27194885..27197425-chr7:27205763..27208498,2	K562	blood:

Variant related genes	Relation type
ENSG00000273433	TF binding region
HOXA3	TF binding region
HOXA7	TF binding region
ENSG00000272801	TF binding region
ENSG00000270182	TF binding region
ENSG00000253187	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17472357	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17472385	1.00[YRI][hapmap]
rs17472658	1.00[AMR][1000 genomes]
rs17473011	1.00[YRI][hapmap]
rs17473046	1.00[AMR][1000 genomes]
rs17473088	1.00[AMR][1000 genomes]
rs17473102	1.00[AMR][1000 genomes]
rs17500660	1.00[AMR][1000 genomes]
rs17501766	1.00[AMR][1000 genomes]
rs17501850	1.00[AMR][1000 genomes]
rs17501857	1.00[AMR][1000 genomes]
rs17501864	1.00[AMR][1000 genomes]
rs17501898	1.00[AMR][1000 genomes]
rs17501954	1.00[AMR][1000 genomes]
rs17501996	1.00[AMR][1000 genomes]
rs57330666	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
12	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
13	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
14	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
15	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
18	nsv887868	chr7:27135314-27202289	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
20	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
21	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
22	nsv1033316	chr7:27140645-27237951	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
23	nsv606465	chr7:27143757-27229549	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	174 gene(s)	inside rSNPs	diseases
24	nsv606466	chr7:27145024-27197319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
25	nsv887875	chr7:27145100-27243962	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
26	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
27	nsv5674	chr7:27152562-27197341	Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
28	nsv824042	chr7:27169231-27247232	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
29	nsv887877	chr7:27169388-27217359	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
30	nsv887878	chr7:27175295-27214557	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
31	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
32	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
33	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27186800-27202600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:27193200-27197800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:27193400-27200400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:27193600-27198600	Active TSS	Fetal Kidney	kidney
5	chr7:27194200-27197400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:27195200-27198400	Bivalent/Poised TSS	Small Intestine	intestine
7	chr7:27195400-27198400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr7:27195400-27198600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:27195400-27199600	Active TSS	Colonic Mucosa	Colon
10	chr7:27195400-27203200	Active TSS	Rectal Smooth Muscle	rectum
11	chr7:27195600-27200600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:27195800-27197200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr7:27196200-27197200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr7:27196200-27197600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr7:27196200-27198400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr7:27196200-27198600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr7:27196400-27197800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr7:27196400-27198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:27196400-27198600	Bivalent Enhancer	Fetal Thymus	thymus
20	chr7:27196400-27199800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:27196400-27199800	Weak transcription	Pancreas	Pancrea
22	chr7:27196600-27197200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:27196600-27197600	Flanking Active TSS	NHEK	skin
24	chr7:27196600-27198200	Weak transcription	Right Atrium	heart
25	chr7:27196600-27198400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:27196600-27199600	Weak transcription	A549	lung
27	chr7:27196600-27200600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:27196600-27201000	Flanking Active TSS	HUVEC	blood vessel
29	chr7:27196800-27197200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:27196800-27197200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:27196800-27197200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr7:27196800-27197200	Enhancers	Psoas Muscle	Psoas
33	chr7:27196800-27197200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
34	chr7:27196800-27197200	Bivalent/Poised TSS	Thymus	Thymus
35	chr7:27196800-27197400	Enhancers	HMEC	breast
36	chr7:27196800-27197600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:27196800-27197600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr7:27196800-27197800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr7:27196800-27198000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr7:27196800-27198400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:27196800-27198400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr7:27196800-27199600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr7:27196800-27199600	Weak transcription	Osteobl	bone
44	chr7:27196800-27199800	Weak transcription	HSMM	muscle
45	chr7:27196800-27200000	Weak transcription	HSMMtube	muscle
46	chr7:27197000-27197200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:27197000-27197200	Active TSS	Adipose Nuclei	Adipose
48	chr7:27197000-27197200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:27197000-27197200	Enhancers	Colon Smooth Muscle	Colon
50	chr7:27197000-27197200	Enhancers	Dnd41	blood

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