Variant report

Variant	rs3010778
Chromosome Location	chr1:213157891-213157892
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	chr1:213157537-213158412	GM12878	blood:	n/a	n/a
2	GTF2F1	chr1:213157729-213157919	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:213157511-213158419	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:213156458-213160932	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:213157593-213158513	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:213156396-213158903	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:213144225-213158764	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:213157670-213158330	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:213157575-213158350	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213153525..213156288-chr1:213157594..213160257,3	K562	blood:

Variant related genes	Relation type
VASH2	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2936009	0.91[LWK][hapmap];0.95[MKK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:213148400-213165400	Weak transcription	Fetal Kidney	kidney
3	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
6	chr1:213152600-213161400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:213152600-213162400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:213153600-213163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:213154000-213164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:213154000-213165000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:213154200-213167000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:213154400-213161000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:213154400-213167600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:213154800-213167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
25	chr1:213155000-213168400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:213155200-213163000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:213155200-213165200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
29	chr1:213155400-213158400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:213155400-213161400	Weak transcription	Primary T cells from cord blood	blood
31	chr1:213155400-213163000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:213155400-213163200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:213155400-213165400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:213155400-213166400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:213155600-213158400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:213155600-213161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:213155600-213162200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr1:213155600-213162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:213155600-213162800	Weak transcription	Left Ventricle	heart
41	chr1:213155600-213166400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:213155600-213168200	Weak transcription	Thymus	Thymus
43	chr1:213155600-213168800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:213155600-213169400	Weak transcription	Lung	lung
45	chr1:213155600-213178400	Weak transcription	Gastric	stomach
46	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
47	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
48	chr1:213155800-213161800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:213155800-213168400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:213156000-213158400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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