Variant report

Variant	rs575665010
Chromosome Location	chr7:139478325-139478326
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	MAX	chr7:139477731-139478708	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr7:139478320-139478470	Caco-2	colon:	n/a	n/a
3	MAX	chr7:139477743-139478691	SK-N-SH	brain:	n/a	n/a
4	ZBTB7A	chr7:139476625-139478556	K562	blood:	n/a	chr7:139478411-139478422
5	ZMIZ1	chr7:139477867-139478327	K562	blood:	n/a	n/a
6	CTCF	chr7:139478322-139478347	GM12891	blood:	n/a	n/a
7	EGR1	chr7:139477689-139478463	K562	blood:	n/a	chr7:139477845-139477859
8	RCOR1	chr7:139478306-139478749	K562	blood:	n/a	n/a
9	CREB1	chr7:139477697-139478481	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:139477673-139478476	GM12878	blood:	n/a	n/a
11	MAX	chr7:139477699-139478790	A549	lung:	n/a	n/a
12	MAX	chr7:139477773-139478489	K562	blood:	n/a	n/a
13	HMGN3	chr7:139477796-139478537	K562	blood:	n/a	n/a
14	POLR2A	chr7:139477348-139478485	GM12892	blood:	n/a	n/a
15	E2F6	chr7:139477754-139478586	K562	blood:	n/a	chr7:139477956-139477965 chr7:139478402-139478412
16	GABPA	chr7:139477728-139478465	K562	blood:	n/a	n/a
17	RAD21	chr7:139477870-139479102	IMR90	lung:	n/a	n/a
18	CREB1	chr7:139477695-139478463	K562	blood:	n/a	n/a
19	POLR2A	chr7:139477667-139478347	K562	blood:	n/a	n/a
20	MAX	chr7:139477706-139478590	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr7:139477827-139478614	GM12878	blood:	n/a	n/a
22	MAZ	chr7:139477759-139478412	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:139477403-139478384	HUVEC	blood vessel:	n/a	n/a
24	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
25	CTCF	chr7:139478180-139478330	GM06990	blood:	n/a	n/a
26	CTCF	chr7:139478260-139478410	AG09319	gingival:	n/a	n/a
27	POLR2A	chr7:139477364-139478621	GM19193	blood:	n/a	n/a
28	MYC	chr7:139477786-139478574	K562	blood:	n/a	n/a
29	POLR2A	chr7:139476514-139478674	K562	blood:	n/a	n/a
30	MAX	chr7:139477647-139478860	A549	lung:	n/a	n/a
31	CTCF	chr7:139478180-139478330	WERI-Rb-1	eye:	n/a	n/a
32	BACH1	chr7:139477886-139478568	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr7:139477700-139478412	HepG2	liver:	n/a	n/a
34	ETS1	chr7:139477763-139478362	K562	blood:	n/a	n/a
35	PML	chr7:139477687-139478796	GM12878	blood:	n/a	n/a
36	YY1	chr7:139477682-139478360	GM12878	blood:	n/a	chr7:139477955-139477969 chr7:139477902-139477921 chr7:139477901-139477921 chr7:139477989-139478000
37	MYC	chr7:139477765-139478577	K562	blood:	n/a	n/a
38	ZNF263	chr7:139477949-139478766	HEK293-T-REx	kidney:	n/a	chr7:139478317-139478338
39	POLR2A	chr7:139477842-139478433	GM12892	blood:	n/a	n/a
40	MTA3	chr7:139478049-139478762	GM12878	blood:	n/a	n/a
41	TAF1	chr7:139477344-139478490	HepG2	liver:	n/a	n/a
42	NR2F2	chr7:139477900-139478658	K562	blood:	n/a	n/a
43	MAX	chr7:139477661-139478593	HCT-116	colon:	n/a	n/a
44	ZNF263	chr7:139477980-139478584	K562	blood:	n/a	chr7:139478317-139478338
45	MAX	chr7:139477695-139478586	MCF-7	breast:	n/a	n/a
46	ELF1	chr7:139477728-139478413	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:139477658-139478679	GM12892	blood:	n/a	n/a
48	CCNT2	chr7:139477791-139478524	K562	blood:	n/a	n/a
49	POLR2A	chr7:139477864-139478735	U87	brain:	n/a	n/a
50	POLR2A	chr7:139474972-139478525	MCF10A-Er-Src	breast:	n/a	n/a

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
HIPK2	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	chr7:139475400-139478400	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:139475400-139478600	Active TSS	Fetal Brain Female	brain
4	chr7:139475400-139478600	Active TSS	Lung	lung
5	chr7:139475400-139478800	Active TSS	Aorta	Aorta
6	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:139475600-139478400	Active TSS	Brain Hippocampus Middle	brain
8	chr7:139475600-139478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:139475600-139478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr7:139475600-139478600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:139475600-139478600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:139475600-139478600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr7:139475600-139478800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:139475600-139478800	Active TSS	Left Ventricle	heart
15	chr7:139475600-139478800	Active TSS	Psoas Muscle	Psoas
16	chr7:139475600-139479000	Active TSS	NHLF	lung
17	chr7:139475800-139478400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:139475800-139478400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:139475800-139478400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:139475800-139478400	Active TSS	Brain Anterior Caudate	brain
21	chr7:139475800-139478400	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:139475800-139478400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:139475800-139478400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:139475800-139478400	Active TSS	Fetal Intestine Small	intestine
25	chr7:139475800-139478400	Active TSS	Fetal Stomach	stomach
26	chr7:139475800-139478400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:139475800-139478400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr7:139475800-139478400	Active TSS	Small Intestine	intestine
29	chr7:139475800-139478400	Active TSS	NHEK	skin
30	chr7:139475800-139478600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:139475800-139478600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:139475800-139478600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr7:139475800-139478600	Active TSS	Colon Smooth Muscle	Colon
34	chr7:139475800-139478600	Active TSS	Fetal Intestine Large	intestine
35	chr7:139475800-139478600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr7:139475800-139478600	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:139475800-139478600	Active TSS	A549	lung
38	chr7:139475800-139478600	Active TSS	HSMMtube	muscle
39	chr7:139475800-139478600	Active TSS	NHDF-Ad	bronchial
40	chr7:139475800-139478800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:139475800-139478800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:139475800-139478800	Active TSS	Esophagus	oesophagus
43	chr7:139475800-139478800	Active TSS	HSMM	muscle
44	chr7:139475800-139478800	Active TSS	NH-A	brain
45	chr7:139475800-139479000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:139475800-139479000	Active TSS	Ovary	ovary
47	chr7:139476000-139478400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr7:139476000-139478600	Active TSS	Osteobl	bone
49	chr7:139476000-139478800	Active TSS	Hela-S3	cervix
50	chr7:139476200-139478400	Active TSS	Primary B cells from peripheral blood	blood

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