Variant report

Variant	rs3770849
Chromosome Location	chr2:36706171-36706172
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	chr2:36705922-36706502	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr2:36705901-36706186	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:36703577-36707125	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr2:36704878-36706568	A549	lung:	n/a	n/a
5	POLR2A	chr2:36706005-36706214	ProgFib	skin:	n/a	n/a
6	TCF12	chr2:36704904-36706217	A549	lung:	n/a	n/a
7	POLR2A	chr2:36705885-36707353	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:36703523-36708264	HUVEC	blood vessel:	n/a	n/a
9	SP1	chr2:36704999-36706184	A549	lung:	n/a	chr2:36705470-36705483
10	POLR2A	chr2:36703880-36707069	SK-N-SH	brain:	n/a	n/a
11	MAX	chr2:36704518-36706375	A549	lung:	n/a	chr2:36706158-36706173
12	POLR2A	chr2:36706104-36706519	A549	lung:	n/a	n/a
13	RUNX3	chr2:36706136-36706444	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:36706133-36706543	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr2:36705949-36707338	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
CRIM1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3770841	0.81[AMR][1000 genomes]
rs4141686	0.81[AMR][1000 genomes]
rs848551	0.81[ASN][1000 genomes]
rs848557	0.83[ASN][1000 genomes]
rs848560	0.80[ASN][1000 genomes]

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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36687200-36712000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
3	chr2:36689200-36706400	Weak transcription	Thymus	Thymus
4	chr2:36702000-36709000	Strong transcription	Hela-S3	cervix
5	chr2:36702400-36712000	Genic enhancers	HUVEC	blood vessel
6	chr2:36703200-36707400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:36703200-36709400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:36703200-36710600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:36703200-36712600	Genic enhancers	Osteobl	bone
10	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:36703400-36706600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr2:36703400-36710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:36703400-36712000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:36703400-36712800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:36703600-36712400	Genic enhancers	NHDF-Ad	bronchial
16	chr2:36703800-36706200	Weak transcription	Primary T cells from cord blood	blood
17	chr2:36703800-36708600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:36703800-36708800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:36703800-36709200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:36703800-36711600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:36703800-36713400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:36704000-36706200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr2:36704000-36706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:36704000-36706400	Genic enhancers	NH-A	brain
25	chr2:36704000-36706600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:36704000-36706800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:36704000-36706800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:36704000-36707000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:36704000-36707400	Genic enhancers	Placenta	Placenta
30	chr2:36704000-36707600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:36704000-36708000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:36704000-36709000	Strong transcription	HepG2	liver
33	chr2:36704000-36710200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:36704000-36712000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:36704000-36712200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:36704000-36712600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:36704200-36706200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:36704200-36707400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:36704200-36707400	Strong transcription	Fetal Intestine Small	intestine
40	chr2:36704200-36707400	Genic enhancers	HSMM	muscle
41	chr2:36704200-36707600	Strong transcription	Fetal Kidney	kidney
42	chr2:36704200-36712400	Strong transcription	Fetal Intestine Large	intestine
43	chr2:36704400-36706200	Strong transcription	Colonic Mucosa	Colon
44	chr2:36704400-36706200	Enhancers	Fetal Thymus	thymus
45	chr2:36704400-36706400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:36704400-36707000	Transcr. at gene 5' and 3'	A549	lung
47	chr2:36704400-36707800	Genic enhancers	Placenta Amnion	Placenta Amnion
48	chr2:36704400-36716200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:36704600-36706200	Weak transcription	Liver	Liver
50	chr2:36704600-36706200	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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