Variant report

Variant	rs191293270
Chromosome Location	chr2:36823326-36823327
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	POLR2A	chr2:36823132-36825590	K562	blood:	n/a	n/a
2	POLR2A	chr2:36822917-36823598	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36703233..36705219-chr2:36822844..36824378,2	K562	blood:
2	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
3	chr2:36773274..36774998-chr2:36822690..36824944,2	MCF-7	breast:
4	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:
5	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
ENSG00000256845	TF binding region
FEZ2	TF binding region
ENSG00000171055	Chromatin interaction
ENSG00000256845	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv2681	chr2:36822990-36848171	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
5	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
7	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
9	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
10	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
13	chr2:36811800-36823600	Weak transcription	Pancreas	Pancrea
14	chr2:36812000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:36812200-36823400	Weak transcription	Lung	lung
16	chr2:36812200-36824000	Weak transcription	HSMMtube	muscle
17	chr2:36813400-36823600	Weak transcription	Hela-S3	cervix
18	chr2:36814600-36823400	Weak transcription	Fetal Stomach	stomach
19	chr2:36816800-36823600	Weak transcription	Fetal Heart	heart
20	chr2:36817800-36823400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:36818000-36823400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:36818000-36823600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:36818000-36823800	Weak transcription	Fetal Thymus	thymus
24	chr2:36818000-36824200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:36818200-36823400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:36818200-36823400	Weak transcription	HMEC	breast
27	chr2:36818200-36823800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:36818200-36824000	Weak transcription	K562	blood
29	chr2:36818400-36823400	Weak transcription	NH-A	brain
30	chr2:36820400-36824200	Enhancers	Liver	Liver
31	chr2:36821000-36823600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:36821800-36824400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:36822000-36823800	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:36822000-36824000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:36822200-36823400	Enhancers	Fetal Brain Male	brain
36	chr2:36822200-36823400	Enhancers	HepG2	liver
37	chr2:36822200-36824000	Enhancers	Colon Smooth Muscle	Colon
38	chr2:36822200-36824400	Enhancers	Ovary	ovary
39	chr2:36822400-36823400	Enhancers	Colonic Mucosa	Colon
40	chr2:36822400-36823800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:36822400-36824400	Enhancers	Stomach Mucosa	stomach
42	chr2:36822600-36823400	Enhancers	Brain Angular Gyrus	brain
43	chr2:36822600-36823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:36822600-36823400	Weak transcription	NHEK	skin
45	chr2:36822600-36823600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:36822600-36823800	Enhancers	Brain Anterior Caudate	brain
47	chr2:36822600-36824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:36822600-36824000	Enhancers	Brain Germinal Matrix	brain
49	chr2:36822600-36824000	Enhancers	Fetal Intestine Large	intestine
50	chr2:36822600-36824200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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