Variant report

Variant	rs377437764
Chromosome Location	chr7:126891404-126891405
allele	C/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	EBF1	chr7:126891113-126891429	GM12878	blood:	n/a	chr7:126891289-126891298 chr7:126891288-126891298 chr7:126891287-126891298 chr7:126891287-126891300 chr7:126891289-126891298
8	CEBPB	chr7:126891146-126891481	K562	blood:	n/a	chr7:126891313-126891326
9	CHD2	chr7:126891362-126891516	HepG2	liver:	n/a	n/a
10	CTCF	chr7:126891300-126891450	GM12865	blood:	n/a	n/a
11	CTCF	chr7:126891400-126891550	HUVEC	blood vessel:	n/a	n/a
12	CEBPB	chr7:126891143-126891590	A549	lung:	n/a	chr7:126891313-126891326
13	EBF1	chr7:126891146-126891432	GM12878	blood:	n/a	chr7:126891289-126891298 chr7:126891288-126891298 chr7:126891287-126891298 chr7:126891287-126891300 chr7:126891289-126891298
14	CTCF	chr7:126891280-126891430	GM06990	blood:	n/a	n/a
15	GATA2	chr7:126890832-126893276	SH-SY5Y	brain:	n/a	chr7:126892404-126892415
16	SUZ12	chr7:126891007-126892364	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr7:126891260-126894159	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr7:126891360-126891510	HMEC	breast:	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:93 , 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	chr7:126890800-126891600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:126890800-126891800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
9	chr7:126890800-126892400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr7:126890800-126894400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr7:126891000-126891600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:126891000-126891600	Enhancers	Pancreas	Pancrea
16	chr7:126891000-126891800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr7:126891000-126891800	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr7:126891000-126891800	Bivalent Enhancer	Colon Smooth Muscle	Colon
19	chr7:126891000-126891800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr7:126891000-126891800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr7:126891000-126891800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr7:126891000-126891800	Enhancers	Gastric	stomach
23	chr7:126891000-126892000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:126891000-126892000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:126891000-126892000	Bivalent Enhancer	Left Ventricle	heart
26	chr7:126891000-126892000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
27	chr7:126891000-126892400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:126891000-126892600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:126891000-126892800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr7:126891000-126892800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr7:126891000-126893400	Flanking Active TSS	Liver	Liver
32	chr7:126891200-126891600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:126891200-126891600	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr7:126891200-126891600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:126891200-126891600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:126891200-126891600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr7:126891200-126891600	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr7:126891200-126891800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:126891200-126891800	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr7:126891200-126891800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr7:126891200-126891800	Bivalent/Poised TSS	NHEK	skin
42	chr7:126891200-126892000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr7:126891200-126892000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr7:126891200-126892000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:126891200-126892000	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr7:126891200-126892000	Bivalent Enhancer	Fetal Stomach	stomach
47	chr7:126891200-126892000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:126891200-126892200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:126891200-126892200	Bivalent Enhancer	Placenta	Placenta
50	chr7:126891200-126892800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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