Variant report

Variant	rs530508703
Chromosome Location	chr7:126891312-126891313
allele	G/T
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	E2F6	chr7:126891248-126892306	H1-hESC	embryonic stem cell:	n/a	chr7:126891678-126891685 chr7:126891677-126891689 chr7:126892275-126892285 chr7:126891678-126891685 chr7:126891675-126891690 chr7:126891678-126891685
2	EBF1	chr7:126891185-126891483	GM12878	blood:	n/a	chr7:126891289-126891298 chr7:126891288-126891298 chr7:126891287-126891298 chr7:126891287-126891300 chr7:126891289-126891298
3	CTCF	chr7:126891260-126891410	GM12873	blood:	n/a	n/a
4	CTCF	chr7:126891300-126891450	RPTEC	kidney:	n/a	n/a
5	CTCF	chr7:126891300-126891450	GM12872	blood:	n/a	n/a
6	CEBPB	chr7:126891174-126891459	H1-hESC	embryonic stem cell:	n/a	chr7:126891313-126891326
7	CTCF	chr7:126891271-126891347	H1-hESC	embryonic stem cell:	n/a	n/a
8	EBF1	chr7:126891113-126891429	GM12878	blood:	n/a	chr7:126891289-126891298 chr7:126891288-126891298 chr7:126891287-126891298 chr7:126891287-126891300 chr7:126891289-126891298
9	CEBPB	chr7:126891146-126891481	K562	blood:	n/a	chr7:126891313-126891326
10	CEBPB	chr7:126891129-126891384	K562	blood:	n/a	chr7:126891313-126891326
11	CTCF	chr7:126891200-126891350	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr7:126891300-126891450	GM12865	blood:	n/a	n/a
13	CTCF	chr7:126891200-126891350	GM12872	blood:	n/a	n/a
14	CTCF	chr7:126891310-126891318	K562	blood:	n/a	n/a
15	CTCF	chr7:126891180-126891330	HUVEC	blood vessel:	n/a	n/a
16	CEBPB	chr7:126891143-126891590	A549	lung:	n/a	chr7:126891313-126891326
17	EBF1	chr7:126891146-126891432	GM12878	blood:	n/a	chr7:126891289-126891298 chr7:126891288-126891298 chr7:126891287-126891298 chr7:126891287-126891300 chr7:126891289-126891298
18	CTCF	chr7:126891220-126891370	GM12872	blood:	n/a	n/a
19	CTCF	chr7:126891280-126891430	GM06990	blood:	n/a	n/a
20	CTCF	chr7:126891240-126891390	GM12864	blood:	n/a	n/a
21	GATA2	chr7:126890832-126893276	SH-SY5Y	brain:	n/a	chr7:126892404-126892415
22	SUZ12	chr7:126891007-126892364	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr7:126891260-126894159	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr7:126891032-126891379	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:126891220-126891370	SAEC	small airway:	n/a	n/a
26	CTCF	chr7:126891220-126891370	GM12875	blood:	n/a	n/a

Variant related genes	Relation type
GRM8	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv464712	chr7:126881029-126908258	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv608380	chr7:126881029-126908258	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv819682	chr7:126890804-126895155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126890200-126894400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:126890600-126891800	Bivalent Enhancer	GM12878-XiMat	blood
3	chr7:126890600-126892000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:126890600-126892000	Active TSS	Brain Anterior Caudate	brain
5	chr7:126890600-126892400	Active TSS	Brain Substantia Nigra	brain
6	chr7:126890600-126894400	Active TSS	Brain Angular Gyrus	brain
7	chr7:126890800-126891400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:126890800-126891400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
9	chr7:126890800-126891400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr7:126890800-126891400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:126890800-126891400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr7:126890800-126891400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr7:126890800-126891400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:126890800-126891600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:126890800-126891800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr7:126890800-126892400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
17	chr7:126890800-126894400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:126891000-126891400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
19	chr7:126891000-126891400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:126891000-126891400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr7:126891000-126891400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr7:126891000-126891400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr7:126891000-126891400	Bivalent Enhancer	Primary T cells from cord blood	blood
24	chr7:126891000-126891400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr7:126891000-126891400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
26	chr7:126891000-126891400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr7:126891000-126891400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr7:126891000-126891400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr7:126891000-126891400	Bivalent Enhancer	Psoas Muscle	Psoas
30	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
33	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:126891000-126891600	Enhancers	Pancreas	Pancrea
35	chr7:126891000-126891800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr7:126891000-126891800	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr7:126891000-126891800	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr7:126891000-126891800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
39	chr7:126891000-126891800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr7:126891000-126891800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr7:126891000-126891800	Enhancers	Gastric	stomach
42	chr7:126891000-126892000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:126891000-126892000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:126891000-126892000	Bivalent Enhancer	Left Ventricle	heart
45	chr7:126891000-126892000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr7:126891000-126892400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:126891000-126892600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:126891000-126892800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr7:126891000-126892800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr7:126891000-126893400	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links