Variant report

Variant	rs7220132
Chromosome Location	chr17:17404586-17404587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:17404460-17404610	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr17:17404460-17404610	GM12871	blood:	n/a	n/a
3	CTCF	chr17:17404381-17404595	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr17:17404340-17404685	HepG2	liver:	n/a	n/a
5	CTCF	chr17:17404440-17404590	AG04450	lung:	n/a	n/a
6	CTCF	chr17:17404416-17404635	NHEK	skin:	n/a	n/a
7	CTCF	chr17:17404440-17404590	K562	blood:	n/a	n/a
8	RAD21	chr17:17404387-17404684	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr17:17404397-17404645	MCF-7	breast:	n/a	n/a
10	CTCF	chr17:17404266-17404758	HCT-116	colon:	n/a	n/a
11	CTCF	chr17:17404440-17404590	SAEC	small airway:	n/a	n/a
12	CTCF	chr17:17404338-17404658	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr17:17404480-17404630	HMEC	breast:	n/a	n/a
14	CTCF	chr17:17404281-17404755	HCT-116	colon:	n/a	n/a
15	RAD21	chr17:17404225-17404788	HCT-116	colon:	n/a	n/a
16	CTCF	chr17:17404460-17404610	GM12865	blood:	n/a	n/a
17	RAD21	chr17:17404377-17404612	HepG2	liver:	n/a	n/a
18	CTCF	chr17:17404390-17404632	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:17404426-17404597	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr17:17404447-17404597	GM10248	blood:	n/a	n/a
21	MYC	chr17:17404577-17404612	MCF-7	breast:	n/a	n/a
22	RAD21	chr17:17404334-17404798	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:17404264-17404719	MCF-7	breast:	n/a	n/a
24	CTCF	chr17:17404460-17404610	NHEK	skin:	n/a	n/a
25	CTCF	chr17:17404430-17404601	K562	blood:	n/a	n/a
26	RAD21	chr17:17404330-17404740	MCF-7	breast:	n/a	n/a
27	RAD21	chr17:17404359-17404618	HepG2	liver:	n/a	n/a
28	CTCF	chr17:17404440-17404590	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr17:17404460-17404610	HPF	lung:	n/a	n/a
30	CTCF	chr17:17404440-17404590	GM12874	blood:	n/a	n/a
31	RAD21	chr17:17404360-17404642	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr17:17404374-17404631	K562	blood:	n/a	n/a
33	CTCF	chr17:17404460-17404610	HCT-116	colon:	n/a	n/a
34	CTCF	chr17:17404460-17404610	GM12869	blood:	n/a	n/a
35	CTCF	chr17:17404440-17404590	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr17:17404440-17404590	AG09309	skin:	n/a	n/a
37	CTCF	chr17:17404411-17404593	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr17:17404440-17404590	Caco-2	colon:	n/a	n/a
39	CTCF	chr17:17404385-17404650	MCF-7	breast:	n/a	n/a
40	SMC3	chr17:17404376-17404657	HepG2	liver:	n/a	n/a
41	CTCF	chr17:17404349-17404790	MCF-7	breast:	n/a	n/a
42	RAD21	chr17:17404262-17404730	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr17:17404376-17404656	GM19239	blood:	n/a	n/a
44	CTCF	chr17:17404394-17404646	MCF-7	breast:	n/a	n/a
45	RAD21	chr17:17404216-17404798	HCT-116	colon:	n/a	n/a
46	CTCF	chr17:17404440-17404590	A549	lung:	n/a	n/a
47	CTCF	chr17:17404437-17404613	ProgFib	skin:	n/a	n/a
48	CTCF	chr17:17404393-17404652	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17402799..17405333-chr17:17413416..17415879,2	K562	blood:
2	chr17:17403140..17409448-chr17:17410177..17415726,8	K562	blood:
3	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:
4	chr17:17377592..17379713-chr17:17402478..17404778,3	K562	blood:
5	chr17:17398131..17401509-chr17:17403115..17406009,4	MCF-7	breast:
6	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
7	chr17:17391754..17393754-chr17:17403950..17406372,2	MCF-7	breast:
8	chr17:17259223..17259968-chr17:17404096..17405018,2	MCF-7	breast:
9	chr17:17398634..17401491-chr17:17403383..17405495,2	K562	blood:
10	chr17:17404221..17407416-chr17:17410177..17412032,3	K562	blood:
11	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
12	chr17:17258335..17259042-chr17:17404049..17404955,3	MCF-7	breast:

No data

Variant related genes	Relation type
RASD1	TF binding region
ENSG00000133027	Chromatin interaction
ENSG00000265511	Chromatin interaction
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11652200	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242490	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1242493	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1242498	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1242499	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1242500	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1242501	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1242502	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242503	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242505	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1242506	0.82[ASN][1000 genomes]
rs1242511	0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1242514	0.90[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1242515	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1242517	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1242518	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1263507	0.90[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1263509	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12938634	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1918249	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2232831	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2660836	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694920	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694926	0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2694927	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28435349	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479310	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4646408	0.94[ASW][hapmap];0.91[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4646410	0.94[ASW][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924755	0.91[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs4924868	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924877	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924890	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924891	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs711352	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7219976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220217	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946	0.91[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8074074	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8074191	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers 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	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv907738	chr17:17404586-17422608	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv907739	chr17:17404586-17424333	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv907740	chr17:17404586-17425858	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv907741	chr17:17404586-17429927	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
17	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7220132	TNFRSF13B	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17399600-17413800	Weak transcription	Dnd41	blood
2	chr17:17400600-17406800	Weak transcription	Brain Angular Gyrus	brain
3	chr17:17400600-17409800	Weak transcription	Esophagus	oesophagus
4	chr17:17400600-17410000	Weak transcription	Liver	Liver
5	chr17:17400600-17415200	Weak transcription	Ovary	ovary
6	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:17400800-17406400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:17400800-17407000	Weak transcription	Fetal Brain Female	brain
9	chr17:17400800-17409000	Weak transcription	Right Ventricle	heart
10	chr17:17400800-17413000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:17401000-17406000	Weak transcription	Fetal Brain Male	brain
13	chr17:17401000-17406200	Weak transcription	Fetal Heart	heart
14	chr17:17401000-17406600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:17401000-17411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
18	chr17:17401200-17411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:17401200-17415200	Weak transcription	Gastric	stomach
20	chr17:17401400-17406400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17401600-17406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:17401600-17407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17401600-17409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:17402200-17408200	Weak transcription	Fetal Intestine Small	intestine

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