Variant report

Variant	rs17038876
Chromosome Location	chr2:37472527-37472528
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	chr2:37472383-37472714	K562	blood:	n/a	n/a
2	POLR2A	chr2:37472473-37472915	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:37472476-37472793	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37466438..37469109-chr2:37469695..37472739,3	K562	blood:
2	chr2:37464823..37466486-chr2:37471416..37473912,2	K562	blood:
3	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:

Variant related genes	Relation type
NDUFAF7	TF binding region
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction

rs_ID	r²[population]
rs11124569	0.82[YRI][hapmap];0.87[AFR][1000 genomes]
rs11680401	0.80[AFR][1000 genomes]
rs2110965	0.91[ASN][1000 genomes]
rs2888434	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs3821143	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4670669	1.00[CEU][hapmap]
rs4670679	0.91[ASN][1000 genomes]
rs4998429	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs6743782	0.84[YRI][hapmap]
rs7589296	0.81[AFR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37460000-37474000	Weak transcription	Colonic Mucosa	Colon
2	chr2:37460000-37495600	Weak transcription	Small Intestine	intestine
3	chr2:37460000-37501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
5	chr2:37460400-37476600	Weak transcription	Right Ventricle	heart
6	chr2:37460400-37481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:37460400-37492200	Weak transcription	Fetal Heart	heart
8	chr2:37460400-37498600	Weak transcription	Gastric	stomach
9	chr2:37460600-37488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:37460600-37493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:37460600-37498600	Weak transcription	Spleen	Spleen
12	chr2:37461000-37488200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:37461000-37489800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:37461200-37518800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:37461800-37486800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr2:37462000-37473400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:37462000-37487200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:37462000-37488000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:37462200-37473200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:37462400-37472800	Weak transcription	NHEK	skin
21	chr2:37462400-37474000	Weak transcription	Aorta	Aorta
22	chr2:37462400-37479200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:37462600-37473800	Weak transcription	Ovary	ovary
24	chr2:37463200-37477000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:37463200-37481000	Strong transcription	A549	lung
26	chr2:37463200-37487200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:37463200-37487600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:37463200-37488000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:37463400-37488400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:37463400-37509600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:37463600-37489600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:37463800-37484800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:37463800-37488200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:37464000-37488400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:37464400-37475800	Strong transcription	Hela-S3	cervix
36	chr2:37464400-37487000	Strong transcription	HSMM	muscle
37	chr2:37464400-37489600	Strong transcription	Liver	Liver
38	chr2:37464600-37476800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:37464800-37486600	Strong transcription	Fetal Intestine Large	intestine
40	chr2:37465000-37489600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:37465200-37476200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:37466000-37487600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:37466800-37476800	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:37467200-37487000	Strong transcription	HepG2	liver
45	chr2:37467400-37473200	Weak transcription	Lung	lung
46	chr2:37467600-37475800	Weak transcription	Esophagus	oesophagus
47	chr2:37467600-37530200	Weak transcription	Pancreas	Pancrea
48	chr2:37468200-37472600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:37468200-37477000	Strong transcription	Primary B cells from cord blood	blood
50	chr2:37468200-37477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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