Variant report

Variant	rs540910197
Chromosome Location	chr7:139477049-139477050
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	ZBTB7A	chr7:139476625-139478556	K562	blood:	n/a	chr7:139478411-139478422
2	POLR2A	chr7:139476696-139477130	K562	blood:	n/a	n/a
3	TCF12	chr7:139476280-139477128	A549	lung:	n/a	chr7:139476400-139476407
4	MAX	chr7:139476183-139477060	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr7:139473945-139477093	SK-N-SH	brain:	n/a	n/a
6	ZBTB7A	chr7:139476603-139478150	K562	blood:	n/a	n/a
7	RAD21	chr7:139475152-139477208	SK-N-SH	brain:	n/a	chr7:139475362-139475371
8	HDAC2	chr7:139476643-139477064	HepG2	liver:	n/a	chr7:139476669-139476683
9	YY1	chr7:139476538-139479022	SK-N-SH	brain:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477955-139477969 chr7:139477902-139477921 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477901-139477921 chr7:139477535-139477546 chr7:139477507-139477515 chr7:139477989-139478000
10	CEBPD	chr7:139476667-139477079	HepG2	liver:	n/a	n/a
11	SMARCB1	chr7:139476651-139477522	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:139475492-139477054	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:139476514-139478674	K562	blood:	n/a	n/a
14	BACH1	chr7:139476693-139477070	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr7:139476485-139477054	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:139476950-139477271	A549	lung:	n/a	n/a
17	POLR2A	chr7:139475569-139477586	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:139474972-139478525	MCF10A-Er-Src	breast:	n/a	n/a
19	YY1	chr7:139476841-139477142	HepG2	liver:	n/a	n/a
20	CHD2	chr7:139476634-139477127	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr7:139474826-139479222	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:139475743-139477138	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:139476614-139477061	A549	lung:	n/a	n/a
24	POLR2A	chr7:139476306-139478541	GM18951	blood:	n/a	n/a
25	STAT3	chr7:139477037-139477068	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:139476500-139477224	HepG2	liver:	n/a	n/a
27	MXI1	chr7:139473683-139479282	IMR90	lung:	n/a	n/a
28	EGR1	chr7:139476909-139477310	K562	blood:	n/a	chr7:139477044-139477059 chr7:139477045-139477058
29	ZBTB7A	chr7:139476977-139477422	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:139476982-139477169	GM12878	blood:	n/a	n/a
31	MAZ	chr7:139476328-139478500	K562	blood:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267
32	MAZ	chr7:139476227-139479595	IMR90	lung:	n/a	chr7:139477444-139477453 chr7:139477485-139477495 chr7:139477257-139477267
33	POLR2A	chr7:139476533-139477166	GM12878	blood:	n/a	n/a
34	TAF1	chr7:139476522-139477157	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr7:139476289-139477153	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:139475679-139478399	GM19099	blood:	n/a	n/a
37	TEAD4	chr7:139476251-139477051	K562	blood:	n/a	n/a
38	POLR2A	chr7:139476598-139477080	HepG2	liver:	n/a	n/a
39	HEY1	chr7:139476487-139477168	HepG2	liver:	n/a	n/a
40	CTCF	chr7:139477000-139477150	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr7:139476499-139478556	GM15510	blood:	n/a	n/a
42	POLR2A	chr7:139475541-139477112	GM12878	blood:	n/a	n/a
43	ZBTB7A	chr7:139476559-139477550	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr7:139475419-139477133	U87	brain:	n/a	n/a
45	TAF1	chr7:139476755-139477102	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr7:139476441-139477684	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr7:139476975-139477138	Hela-S3	cervix:	n/a	n/a
48	ZBTB7A	chr7:139476843-139477051	HepG2	liver:	n/a	n/a
49	UBTF	chr7:139476410-139477067	K562	blood:	n/a	n/a
50	EGR1	chr7:139476965-139477259	K562	blood:	n/a	chr7:139477044-139477059 chr7:139477045-139477058

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26158181..26160251-chr7:139476447..139479207,2	K562	blood:
2	chr7:139476813..139479584-chr7:139529025..139531896,2	MCF-7	breast:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS 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	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3442657	chr7:139476008-139478856	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3374483	chr7:139476358-139478831	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3371546	chr7:139476533-139478481	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139474800-139478400	Active TSS	Right Ventricle	heart
2	chr7:139475400-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:139475400-139478200	Active TSS	Thymus	Thymus
4	chr7:139475400-139478400	Active TSS	Stomach Smooth Muscle	stomach
5	chr7:139475400-139478600	Active TSS	Fetal Brain Female	brain
6	chr7:139475400-139478600	Active TSS	Lung	lung
7	chr7:139475400-139478800	Active TSS	Aorta	Aorta
8	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:139475600-139477200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:139475600-139477200	Active TSS	Brain Angular Gyrus	brain
11	chr7:139475600-139477200	Active TSS	Fetal Kidney	kidney
12	chr7:139475600-139477200	Active TSS	Fetal Lung	lung
13	chr7:139475600-139478000	Active TSS	Colonic Mucosa	Colon
14	chr7:139475600-139478000	Active TSS	Pancreas	Pancrea
15	chr7:139475600-139478200	Active TSS	Gastric	stomach
16	chr7:139475600-139478200	Active TSS	Right Atrium	heart
17	chr7:139475600-139478400	Active TSS	Brain Hippocampus Middle	brain
18	chr7:139475600-139478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:139475600-139478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:139475600-139478600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:139475600-139478600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:139475600-139478600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr7:139475600-139478800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:139475600-139478800	Active TSS	Left Ventricle	heart
25	chr7:139475600-139478800	Active TSS	Psoas Muscle	Psoas
26	chr7:139475600-139479000	Active TSS	NHLF	lung
27	chr7:139475800-139477200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:139475800-139477200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:139475800-139477200	Active TSS	Brain Substantia Nigra	brain
30	chr7:139475800-139478200	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr7:139475800-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:139475800-139478200	Active TSS	Adipose Nuclei	Adipose
33	chr7:139475800-139478200	Active TSS	Liver	Liver
34	chr7:139475800-139478200	Active TSS	Placenta	Placenta
35	chr7:139475800-139478200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:139475800-139478200	Active TSS	GM12878-XiMat	blood
37	chr7:139475800-139478200	Active TSS	HMEC	breast
38	chr7:139475800-139478400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:139475800-139478400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:139475800-139478400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:139475800-139478400	Active TSS	Brain Anterior Caudate	brain
42	chr7:139475800-139478400	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:139475800-139478400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr7:139475800-139478400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:139475800-139478400	Active TSS	Fetal Intestine Small	intestine
46	chr7:139475800-139478400	Active TSS	Fetal Stomach	stomach
47	chr7:139475800-139478400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:139475800-139478400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr7:139475800-139478400	Active TSS	Small Intestine	intestine
50	chr7:139475800-139478400	Active TSS	NHEK	skin

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