Variant report

Variant	rs59946147
Chromosome Location	chr7:7031553-7031554
allele	A/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	GATA2	chr7:7031322-7031771	K562	blood:	n/a	n/a
2	POLR2A	chr7:7030503-7031867	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr7:7031478-7031725	K562	blood:	n/a	n/a
4	CTCF	chr7:7031440-7031590	HPF	lung:	n/a	n/a
5	CTCF	chr7:7031520-7031670	RPTEC	kidney:	n/a	n/a
6	CTCF	chr7:7031480-7031630	HCFaa	heart:	n/a	n/a
7	CTCF	chr7:7031509-7031586	Pancreas_OC	pancreas:	n/a	n/a
8	EP300	chr7:7031382-7031681	GM12878	blood:	n/a	n/a
9	CTCF	chr7:7031420-7031570	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:7031384-7031716	K562	blood:	n/a	n/a
11	CTCF	chr7:7031464-7031641	Medullo	brain:	n/a	n/a
12	CTCF	chr7:7031507-7031555	LNCaP	prostate:	n/a	n/a
13	CTCF	chr7:7031422-7031660	K562	blood:	n/a	n/a
14	CTCF	chr7:7031377-7031705	K562	blood:	n/a	n/a
15	CBX3	chr7:7030732-7031655	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221011	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10233611	0.81[ASN][1000 genomes]
rs10249406	0.91[ASN][1000 genomes]
rs10261221	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10263927	0.81[ASN][1000 genomes]
rs10952013	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10952015	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10952016	0.90[ASN][1000 genomes]
rs11771310	0.86[ASN][1000 genomes]
rs11981708	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34066920	0.99[ASN][1000 genomes]
rs34077097	0.90[ASN][1000 genomes]
rs34197952	0.94[ASN][1000 genomes]
rs34546043	0.98[ASN][1000 genomes]
rs34852575	0.98[ASN][1000 genomes]
rs58152459	0.99[ASN][1000 genomes]
rs59411415	0.87[ASN][1000 genomes]
rs59738778	0.96[ASN][1000 genomes]
rs60149913	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60177067	0.93[ASN][1000 genomes]
rs61342486	0.99[ASN][1000 genomes]
rs67261371	0.98[ASN][1000 genomes]
rs72506054	0.98[ASN][1000 genomes]
rs72587022	0.98[ASN][1000 genomes]
rs72587031	0.96[ASN][1000 genomes]
rs9986979	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv469900	chr7:6870634-7141565	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1034881	chr7:6882240-7040907	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv981431	chr7:6899796-7040440	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1031339	chr7:6990866-7098418	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
15	nsv1023662	chr7:7001595-7145831	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1022306	chr7:7001595-7149989	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
17	esv2761153	chr7:7001607-7190803	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
18	nsv887464	chr7:7019281-7141137	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
19	nsv606029	chr7:7021042-7081413	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7029800-7032200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:7030200-7031800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr7:7030200-7032200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:7030400-7031800	Active TSS	Fetal Intestine Large	intestine
5	chr7:7030400-7032400	Active TSS	Fetal Intestine Small	intestine
6	chr7:7030600-7031600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:7030600-7032600	Active TSS	Duodenum Mucosa	Duodenum
8	chr7:7030800-7031600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr7:7030800-7031600	Flanking Active TSS	Fetal Kidney	kidney
10	chr7:7030800-7031600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:7030800-7031600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:7030800-7032600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:7031000-7031600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:7031000-7031600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:7031000-7031600	Enhancers	Fetal Stomach	stomach
16	chr7:7031000-7031800	Active TSS	Rectal Smooth Muscle	rectum
17	chr7:7031200-7031600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:7031200-7031600	Enhancers	Primary T cells from cord blood	blood
19	chr7:7031200-7031600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:7031200-7031600	Enhancers	Adipose Nuclei	Adipose
21	chr7:7031200-7032400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:7031200-7033600	Weak transcription	Right Atrium	heart
23	chr7:7031400-7031600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:7031400-7031600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:7031400-7031600	Weak transcription	Stomach Mucosa	stomach
26	chr7:7031400-7031600	Active TSS	NHEK	skin
27	chr7:7031400-7031600	Active TSS	Osteobl	bone
28	chr7:7031400-7031800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:7031400-7032000	Enhancers	Fetal Lung	lung
30	chr7:7031400-7032400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:7031400-7032400	Enhancers	K562	blood
32	chr7:7031400-7033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:7031400-7035600	Weak transcription	Left Ventricle	heart

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