Variant report

Variant	rs2075215
Chromosome Location	chr2:37454265-37454266
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:37453543-37454383	K562	blood:	n/a	n/a
2	POLR2A	chr2:37453998-37455224	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:37454262-37454316	ProgFib	skin:	n/a	n/a
4	POLR2A	chr2:37454130-37454322	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr2:37454035-37454352	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr2:37454026-37454297	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:37453577-37454317	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:37454153-37454298	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:37454031-37454329	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37453148..37455201-chr2:37485988..37487666,2	K562	blood:
2	chr2:37441521..37444324-chr2:37453853..37455939,2	K562	blood:
3	chr2:37453426..37455818-chr2:37549364..37551378,2	K562	blood:
4	chr2:37415796..37419899-chr2:37451896..37456722,5	K562	blood:

No data

Variant related genes	Relation type
NDUFAF7	TF binding region
ENSG00000138068	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10204434	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10206380	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs10460527	0.95[JPT][hapmap]
rs11124570	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1160516	0.95[JPT][hapmap]
rs11887618	0.95[JPT][hapmap]
rs12469082	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12476195	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13390055	0.95[JPT][hapmap]
rs13412560	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs13421912	0.95[JPT][hapmap]
rs13429526	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17020344	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17020358	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2041838	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2041839	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2075216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2216114	0.95[JPT][hapmap]
rs2239650	0.86[JPT][hapmap]
rs2241163	0.86[EUR][1000 genomes]
rs2268988	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2287091	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2287092	0.95[JPT][hapmap]
rs2300886	0.95[JPT][hapmap]
rs2300887	0.95[JPT][hapmap]
rs2300888	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2300891	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2300894	0.90[JPT][hapmap]
rs2300896	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302649	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2372887	0.95[ASN][1000 genomes]
rs3213746	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755192	0.90[JPT][hapmap]
rs3770761	0.95[JPT][hapmap]
rs3821144	0.95[JPT][hapmap]
rs4629138	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4670187	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs4670682	0.95[JPT][hapmap]
rs4670684	0.95[JPT][hapmap]
rs4670685	0.89[JPT][hapmap]
rs57861177	0.90[EUR][1000 genomes]
rs59559471	0.85[ASN][1000 genomes]
rs59612622	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60981509	0.86[EUR][1000 genomes]
rs73927424	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9309003	0.95[JPT][hapmap]
rs952711	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs952712	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37436800-37456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37437200-37456600	Weak transcription	Stomach Mucosa	stomach
3	chr2:37438000-37455200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37439800-37456600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:37440400-37455200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:37442800-37456000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:37443000-37456000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:37448200-37455200	Weak transcription	Right Ventricle	heart
9	chr2:37448400-37455000	Weak transcription	Gastric	stomach
10	chr2:37448400-37455200	Weak transcription	Pancreas	Pancrea
11	chr2:37448400-37456600	Weak transcription	Aorta	Aorta
12	chr2:37448400-37456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:37448400-37457800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:37448800-37456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:37449000-37454600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:37451200-37454600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:37451400-37454400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:37451600-37454600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:37452400-37456600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:37453000-37456000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:37453200-37455800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:37453200-37456000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:37453400-37454400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:37453400-37454400	Enhancers	Brain Angular Gyrus	brain
25	chr2:37453400-37454400	Genic enhancers	Thymus	Thymus
26	chr2:37453400-37454600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
27	chr2:37453400-37454800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
28	chr2:37453400-37455400	Genic enhancers	A549	lung
29	chr2:37453400-37455600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:37453400-37455800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:37453400-37455800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:37453400-37455800	Strong transcription	NH-A	brain
33	chr2:37453400-37456000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:37453400-37456000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:37453400-37456000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:37453400-37456000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:37453400-37456200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr2:37453400-37456200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:37453400-37456200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:37453400-37456200	Strong transcription	HSMM	muscle
41	chr2:37453400-37456400	Strong transcription	Primary B cells from cord blood	blood
42	chr2:37453400-37456400	Genic enhancers	HepG2	liver
43	chr2:37453400-37456600	Genic enhancers	K562	blood
44	chr2:37453400-37457600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
45	chr2:37453600-37454600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:37453600-37454800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
47	chr2:37453600-37454800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
48	chr2:37453600-37455000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:37453600-37455400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
50	chr2:37453600-37455400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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