Variant report

Variant	rs151015312
Chromosome Location	chr7:140373183-140373184
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	CHD2	chr7:140373165-140373347	K562	blood:	n/a	n/a
3	MAX	chr7:140372431-140373722	H1-hESC	embryonic stem cell:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
4	CTCF	chr7:140373066-140373271	GM19239	blood:	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	chr7:140373114-140373185	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:140373100-140373250	GM12871	blood:	n/a	n/a
9	POLR2A	chr7:140372586-140373645	K562	blood:	n/a	n/a
10	POLR2A	chr7:140372447-140373749	HEK293	kidney:	n/a	n/a
11	POLR2A	chr7:140372699-140373380	A549	lung:	n/a	n/a
12	UBTF	chr7:140372857-140373487	K562	blood:	n/a	n/a
13	NR2F2	chr7:140373051-140373747	K562	blood:	n/a	n/a
14	POLR2A	chr7:140372695-140373225	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr7:140373040-140373190	NHEK	skin:	n/a	n/a
16	POLR2A	chr7:140372572-140373509	K562	blood:	n/a	n/a
17	CBX3	chr7:140372988-140373477	K562	blood:	n/a	n/a
18	CTCFL	chr7:140372871-140373244	K562	blood:	n/a	n/a
19	E2F6	chr7:140372716-140373299	A549	lung:	n/a	chr7:140372848-140372858 chr7:140372998-140373013
20	JUND	chr7:140373090-140373562	K562	blood:	n/a	n/a
21	E2F6	chr7:140372447-140373554	K562	blood:	n/a	chr7:140372848-140372858 chr7:140372998-140373013
22	CTCF	chr7:140373103-140373208	MCF-7	breast:	n/a	n/a
23	E2F4	chr7:140373003-140373561	MCF10A-Er-Src	breast:	n/a	n/a
24	SIN3AK20	chr7:140372715-140373204	K562	blood:	n/a	n/a
25	MAZ	chr7:140372359-140373651	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
26	ELF1	chr7:140372574-140374124	GM12878	blood:	n/a	chr7:140372797-140372809
27	POLR2A	chr7:140372427-140373802	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:140373040-140373190	GM12867	blood:	n/a	n/a
29	ZEB1	chr7:140372503-140374016	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:140372684-140373425	A549	lung:	n/a	n/a
31	HEY1	chr7:140372670-140373439	K562	blood:	n/a	chr7:140372788-140372803 chr7:140372809-140372824
32	POLR2A	chr7:140372677-140373622	GM12892	blood:	n/a	n/a
33	MAZ	chr7:140372063-140373834	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
34	POLR2A	chr7:140372665-140373748	HCT-116	colon:	n/a	n/a
35	CTCF	chr7:140373060-140373222	GM12891	blood:	n/a	n/a
36	TCF3	chr7:140372718-140373393	GM12878	blood:	n/a	n/a
37	MAX	chr7:140373003-140373791	MCF-7	breast:	n/a	n/a
38	POLR2A	chr7:140372437-140373543	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:140372965-140373514	GM12892	blood:	n/a	n/a
40	NR2F2	chr7:140372507-140373810	MCF-7	breast:	n/a	n/a
41	RUNX3	chr7:140373057-140373570	GM12878	blood:	n/a	n/a
42	MAX	chr7:140372607-140373664	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
43	MTA3	chr7:140372943-140374693	GM12878	blood:	n/a	n/a
44	MAX	chr7:140372925-140373277	HepG2	liver:	n/a	chr7:140372990-140373000
45	ZBTB7A	chr7:140372495-140373469	K562	blood:	n/a	n/a
46	CTCF	chr7:140373140-140373290	GM12868	blood:	n/a	n/a
47	MYC	chr7:140372576-140373625	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
48	MAX	chr7:140372457-140373758	MCF-7	breast:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
49	CTCF	chr7:140372978-140373238	K562	blood:	n/a	n/a
50	TCF12	chr7:140372718-140373613	ECC-1	luminal epithelium:	n/a	n/a

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
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000133597	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140372000-140373200	Active TSS	Brain Hippocampus Middle	brain
2	chr7:140372000-140373400	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr7:140372200-140373200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr7:140372200-140373200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:140372200-140373200	Active TSS	Muscle Satellite Cultured Cells	--
6	chr7:140372200-140373200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:140372200-140373200	Active TSS	GM12878-XiMat	blood
8	chr7:140372200-140373400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:140372200-140373400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr7:140372200-140373400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:140372200-140373400	Active TSS	Fetal Brain Female	brain
12	chr7:140372200-140373400	Active TSS	Placenta	Placenta
13	chr7:140372200-140373400	Active TSS	Right Atrium	heart
14	chr7:140372200-140373600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:140372200-140373600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:140372200-140373600	Active TSS	Brain Angular Gyrus	brain
17	chr7:140372200-140373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:140372200-140373800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:140372200-140374000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:140372400-140373200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:140372400-140373200	Active TSS	Primary B cells from cord blood	blood
22	chr7:140372400-140373200	Active TSS	Primary T cells fromperipheralblood	blood
23	chr7:140372400-140373200	Active TSS	Brain Germinal Matrix	brain
24	chr7:140372400-140373200	Active TSS	Colonic Mucosa	Colon
25	chr7:140372400-140373200	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:140372400-140373200	Active TSS	Fetal Lung	lung
27	chr7:140372400-140373200	Active TSS	Fetal Muscle Trunk	muscle
28	chr7:140372400-140373200	Active TSS	Pancreas	Pancrea
29	chr7:140372400-140373200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr7:140372400-140373200	Weak transcription	Stomach Mucosa	stomach
31	chr7:140372400-140373200	Active TSS	Thymus	Thymus
32	chr7:140372400-140373200	Active TSS	NH-A	brain
33	chr7:140372400-140373200	Active TSS	NHEK	skin
34	chr7:140372400-140373200	Active TSS	Osteobl	bone
35	chr7:140372400-140373400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:140372400-140373400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:140372400-140373400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:140372400-140373400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr7:140372400-140373400	Active TSS	Brain Substantia Nigra	brain
40	chr7:140372400-140373400	Active TSS	Colon Smooth Muscle	Colon
41	chr7:140372400-140373400	Weak transcription	Fetal Heart	heart
42	chr7:140372400-140373400	Active TSS	Fetal Intestine Large	intestine
43	chr7:140372400-140373400	Active TSS	Fetal Stomach	stomach
44	chr7:140372400-140373400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr7:140372400-140373400	Active TSS	Right Ventricle	heart
46	chr7:140372400-140373400	Active TSS	A549	lung
47	chr7:140372400-140373600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:140372400-140373600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:140372400-140373600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:140372400-140373600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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