Variant report

Variant	rs372972431
Chromosome Location	chr7:140373452-140373453
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	POLR2A	chr7:140372526-140373472	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr7:140373320-140373470	NHEK	skin:	n/a	n/a
3	MAX	chr7:140372431-140373722	H1-hESC	embryonic stem cell:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
4	CTCF	chr7:140373340-140373490	AG10803	skin:	n/a	n/a
5	POLR2A	chr7:140372420-140373536	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:140372433-140373614	HCT-116	colon:	n/a	n/a
7	CTCF	chr7:140373360-140373510	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:140372586-140373645	K562	blood:	n/a	n/a
9	POLR2A	chr7:140372447-140373749	HEK293	kidney:	n/a	n/a
10	UBTF	chr7:140372857-140373487	K562	blood:	n/a	n/a
11	NR2F2	chr7:140373051-140373747	K562	blood:	n/a	n/a
12	CTCF	chr7:140373320-140373470	GM12865	blood:	n/a	n/a
13	POLR2A	chr7:140372572-140373509	K562	blood:	n/a	n/a
14	CBX3	chr7:140372988-140373477	K562	blood:	n/a	n/a
15	JUND	chr7:140373090-140373562	K562	blood:	n/a	n/a
16	E2F6	chr7:140372447-140373554	K562	blood:	n/a	chr7:140372848-140372858 chr7:140372998-140373013
17	E2F4	chr7:140373003-140373561	MCF10A-Er-Src	breast:	n/a	n/a
18	MAZ	chr7:140372359-140373651	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
19	CTCF	chr7:140373320-140373470	RPTEC	kidney:	n/a	n/a
20	ELF1	chr7:140372574-140374124	GM12878	blood:	n/a	chr7:140372797-140372809
21	POLR2A	chr7:140372427-140373802	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:140373320-140373470	HUVEC	blood vessel:	n/a	n/a
23	ZEB1	chr7:140372503-140374016	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:140372677-140373622	GM12892	blood:	n/a	n/a
25	MAZ	chr7:140372063-140373834	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
26	POLR2A	chr7:140372665-140373748	HCT-116	colon:	n/a	n/a
27	MAX	chr7:140373003-140373791	MCF-7	breast:	n/a	n/a
28	POLR2A	chr7:140372437-140373543	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:140372965-140373514	GM12892	blood:	n/a	n/a
30	NR2F2	chr7:140372507-140373810	MCF-7	breast:	n/a	n/a
31	RUNX3	chr7:140373057-140373570	GM12878	blood:	n/a	n/a
32	MAX	chr7:140372607-140373664	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
33	CTCF	chr7:140373360-140373510	HMEC	breast:	n/a	n/a
34	CTCF	chr7:140373344-140373453	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:140373440-140373590	GM12869	blood:	n/a	n/a
36	MTA3	chr7:140372943-140374693	GM12878	blood:	n/a	n/a
37	ZBTB7A	chr7:140372495-140373469	K562	blood:	n/a	n/a
38	MYC	chr7:140372576-140373625	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
39	MAX	chr7:140372457-140373758	MCF-7	breast:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
40	TBP	chr7:140373254-140373543	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF12	chr7:140372718-140373613	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr7:140372717-140373731	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr7:140372668-140373483	K562	blood:	n/a	n/a
44	POLR2A	chr7:140372402-140373583	GM12892	blood:	n/a	n/a
45	TAF1	chr7:140372453-140373594	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr7:140372379-140374681	Raji	blood:	n/a	n/a
47	MXI1	chr7:140373383-140373583	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr7:140372632-140373551	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
49	HMGN3	chr7:140372473-140373679	K562	blood:	n/a	n/a
50	MAX	chr7:140372971-140373758	H1-hESC	embryonic stem cell:	n/a	chr7:140372990-140373000

No.	Distal block	Cell Line	Cell type
1	chr7:140372637..140375611-chr7:140394231..140397834,5	K562	blood:
2	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
3	chr7:140372831..140374417-chr7:140400299..140402616,2	MCF-7	breast:
4	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
5	chr7:140371560..140374067-chr7:140396511..140398663,2	K562	blood:
6	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
7	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3373922	chr7:140371933-140374031	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140372200-140373600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:140372200-140373600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:140372200-140373600	Active TSS	Brain Angular Gyrus	brain
4	chr7:140372200-140373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:140372200-140373800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:140372200-140374000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:140372400-140373600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:140372400-140373600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:140372400-140373600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:140372400-140373600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:140372400-140373600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:140372400-140373600	Active TSS	Brain Anterior Caudate	brain
13	chr7:140372400-140373600	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:140372400-140373600	Active TSS	Fetal Intestine Small	intestine
15	chr7:140372400-140373600	Active TSS	Psoas Muscle	Psoas
16	chr7:140372400-140373600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:140372400-140373600	Active TSS	HSMM	muscle
18	chr7:140372400-140373600	Active TSS	NHDF-Ad	bronchial
19	chr7:140372400-140373600	Active TSS	NHLF	lung
20	chr7:140372400-140373800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr7:140372400-140373800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:140372400-140373800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:140372400-140373800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:140372400-140373800	Active TSS	Ovary	ovary
25	chr7:140372400-140374000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr7:140372400-140374000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:140372400-140374400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:140372600-140373600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:140372600-140373600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:140372600-140373600	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:140372600-140373600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr7:140372600-140373800	Active TSS	Aorta	Aorta
33	chr7:140372600-140373800	Active TSS	Esophagus	oesophagus
34	chr7:140372600-140373800	Active TSS	Small Intestine	intestine
35	chr7:140372600-140374000	Active TSS	Fetal Kidney	kidney
36	chr7:140372600-140375800	Enhancers	Fetal Brain Male	brain
37	chr7:140372800-140373600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:140372800-140373600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:140372800-140373600	Active TSS	Gastric	stomach
40	chr7:140372800-140373600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr7:140373000-140373600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:140373000-140373800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:140373000-140373800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:140373000-140373800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:140373000-140373800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:140373000-140373800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr7:140373000-140373800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr7:140373000-140373800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:140373000-140373800	Flanking Active TSS	Liver	Liver
50	chr7:140373000-140374000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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