Variant report

Variant	rs72863107
Chromosome Location	chr2:37469391-37469392
allele	A/C
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	chr2:37469354-37469454	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37458068..37462101-chr2:37468406..37471417,5	K562	blood:
2	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:
3	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28548299	0.89[EUR][1000 genomes]
rs55912911	0.92[AFR][1000 genomes]
rs56966464	0.84[AFR][1000 genomes]
rs72863111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863134	0.88[AFR][1000 genomes]
rs72863147	0.84[AFR][1000 genomes]
rs72875750	1.00[EUR][1000 genomes]
rs72875751	1.00[EUR][1000 genomes]
rs72875758	1.00[EUR][1000 genomes]
rs72875760	1.00[EUR][1000 genomes]
rs72875762	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72875779	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37460000-37471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:37460000-37474000	Weak transcription	Colonic Mucosa	Colon
3	chr2:37460000-37495600	Weak transcription	Small Intestine	intestine
4	chr2:37460000-37501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
6	chr2:37460400-37470600	Weak transcription	Fetal Kidney	kidney
7	chr2:37460400-37471200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:37460400-37472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:37460400-37472400	Weak transcription	Brain Substantia Nigra	brain
10	chr2:37460400-37476600	Weak transcription	Right Ventricle	heart
11	chr2:37460400-37481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:37460400-37492200	Weak transcription	Fetal Heart	heart
13	chr2:37460400-37498600	Weak transcription	Gastric	stomach
14	chr2:37460600-37471200	Weak transcription	Fetal Brain Male	brain
15	chr2:37460600-37488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:37460600-37493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:37460600-37498600	Weak transcription	Spleen	Spleen
18	chr2:37461000-37488200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:37461000-37489800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:37461200-37471400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:37461200-37518800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:37461800-37486800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr2:37462000-37473400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:37462000-37487200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:37462000-37488000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:37462200-37471000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:37462200-37473200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:37462400-37470800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:37462400-37472800	Weak transcription	NHEK	skin
30	chr2:37462400-37474000	Weak transcription	Aorta	Aorta
31	chr2:37462400-37479200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:37462600-37470400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:37462600-37473800	Weak transcription	Ovary	ovary
34	chr2:37462800-37471000	Weak transcription	Thymus	Thymus
35	chr2:37463000-37470200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:37463200-37469600	Strong transcription	Fetal Thymus	thymus
37	chr2:37463200-37470600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:37463200-37470800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:37463200-37477000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:37463200-37481000	Strong transcription	A549	lung
41	chr2:37463200-37487200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:37463200-37487600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:37463200-37488000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:37463400-37488400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:37463400-37509600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:37463600-37489600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:37463800-37484800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:37463800-37488200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:37464000-37469600	Strong transcription	Primary T cells from cord blood	blood
50	chr2:37464000-37469800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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