Variant report

Variant	rs2041839
Chromosome Location	chr2:37467339-37467340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37467334-37467495	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37464697..37467448-chr2:37467935..37469545,2	K562	blood:
2	chr2:37455370..37456889-chr2:37465153..37467746,2	MCF-7	breast:
3	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:
4	chr2:37466438..37469109-chr2:37469695..37472739,3	K562	blood:
5	chr2:37466495..37468720-chr2:37469102..37471276,2	MCF-7	breast:

No data

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

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10201396	0.85[ASN][1000 genomes]
rs10204434	0.85[ASN][1000 genomes]
rs10460527	0.88[ASN][1000 genomes]
rs11124570	0.91[ASN][1000 genomes]
rs11124573	0.89[ASN][1000 genomes]
rs1160516	0.89[ASN][1000 genomes]
rs11887618	0.90[ASN][1000 genomes]
rs12469082	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12471267	0.89[ASN][1000 genomes]
rs12476195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13390055	0.90[ASN][1000 genomes]
rs13412560	0.83[ASN][1000 genomes]
rs13421912	0.89[ASN][1000 genomes]
rs13429526	0.98[ASN][1000 genomes]
rs17020344	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17020358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041838	0.99[ASN][1000 genomes]
rs2075215	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2075216	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2192939	0.81[ASN][1000 genomes]
rs2216114	0.89[ASN][1000 genomes]
rs2241163	0.86[EUR][1000 genomes]
rs2251879	0.81[ASN][1000 genomes]
rs2268988	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2287091	0.85[ASN][1000 genomes]
rs2287092	0.90[ASN][1000 genomes]
rs2300886	0.89[ASN][1000 genomes]
rs2300887	0.88[ASN][1000 genomes]
rs2300888	0.88[ASN][1000 genomes]
rs2300891	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2300894	0.90[ASN][1000 genomes]
rs2300895	0.90[ASN][1000 genomes]
rs2300896	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302649	0.82[ASN][1000 genomes]
rs2372887	0.84[ASN][1000 genomes]
rs28524149	0.80[ASN][1000 genomes]
rs3213746	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3770761	0.89[ASN][1000 genomes]
rs3770767	0.88[ASN][1000 genomes]
rs3821144	0.88[ASN][1000 genomes]
rs4629138	0.82[ASN][1000 genomes]
rs4670682	0.88[ASN][1000 genomes]
rs4670684	0.81[ASN][1000 genomes]
rs57861177	0.90[EUR][1000 genomes]
rs59559471	0.96[ASN][1000 genomes]
rs59612622	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60981509	0.86[EUR][1000 genomes]
rs73927424	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309002	0.88[ASN][1000 genomes]
rs9309003	0.88[ASN][1000 genomes]
rs952711	0.86[EUR][1000 genomes]
rs952712	0.86[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	chr2:37460000-37468200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37460000-37468600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37460000-37471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:37460000-37474000	Weak transcription	Colonic Mucosa	Colon
5	chr2:37460000-37495600	Weak transcription	Small Intestine	intestine
6	chr2:37460000-37501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:37460200-37468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:37460200-37468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
10	chr2:37460400-37467400	Weak transcription	NHDF-Ad	bronchial
11	chr2:37460400-37468000	Weak transcription	HUVEC	blood vessel
12	chr2:37460400-37468400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:37460400-37468400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:37460400-37468400	Weak transcription	NH-A	brain
15	chr2:37460400-37468600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:37460400-37468600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:37460400-37468800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:37460400-37468800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:37460400-37469000	Weak transcription	HMEC	breast
20	chr2:37460400-37470600	Weak transcription	Fetal Kidney	kidney
21	chr2:37460400-37471200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:37460400-37472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:37460400-37472400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:37460400-37476600	Weak transcription	Right Ventricle	heart
25	chr2:37460400-37481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:37460400-37492200	Weak transcription	Fetal Heart	heart
27	chr2:37460400-37498600	Weak transcription	Gastric	stomach
28	chr2:37460600-37467800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:37460600-37468600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:37460600-37468600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:37460600-37468800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:37460600-37471200	Weak transcription	Fetal Brain Male	brain
33	chr2:37460600-37488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:37460600-37493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:37460600-37498600	Weak transcription	Spleen	Spleen
36	chr2:37461000-37488200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:37461000-37489800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:37461200-37467600	Strong transcription	Fetal Intestine Small	intestine
39	chr2:37461200-37467800	Strong transcription	Fetal Stomach	stomach
40	chr2:37461200-37468800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:37461200-37471400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:37461200-37518800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:37461600-37467400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:37461800-37486800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:37462000-37467400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:37462000-37473400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:37462000-37487200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:37462000-37488000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:37462200-37471000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:37462200-37473200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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