Variant report

Variant	rs1975351
Chromosome Location	chr12:51135167-51135168
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	chr12:51135162-51135178	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51133005..51135454-chr12:51141741..51143459,2	MCF-7	breast:
2	chr12:51132277..51135188-chr12:51148586..51150775,2	K562	blood:

Variant related genes	Relation type
ENSG00000200428	TF binding region
ENSG00000271018	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs10876079	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs11833478	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12296966	0.87[AFR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12322206	1.00[ASW][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.87[AFR][1000 genomes]
rs12322925	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1465860	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1866422	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs2037453	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2253376	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	0.87[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2468378	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2554869	1.00[EUR][1000 genomes]
rs2684895	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	1.00[EUR][1000 genomes]
rs2684905	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2700476	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs2731441	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2731444	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2731447	1.00[ASW][hapmap];1.00[MEX][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2731448	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768908	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs6580762	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829136	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9804978	1.00[EUR][1000 genomes]
rs9943796	1.00[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	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
7	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:51074600-51139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:51090600-51138400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:51096000-51142000	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:51096200-51144600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
17	chr12:51108200-51142200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:51110600-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr12:51110800-51142200	Strong transcription	Lung	lung
21	chr12:51111400-51141600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:51111400-51141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:51111400-51144600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:51111600-51142200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:51111800-51136600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:51112000-51141800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:51112000-51142000	Strong transcription	Dnd41	blood
28	chr12:51112000-51144800	Strong transcription	Primary T cells from cord blood	blood
29	chr12:51112200-51144800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:51114200-51144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:51114800-51141800	Strong transcription	HepG2	liver
32	chr12:51114800-51142400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:51116200-51140200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:51116200-51144000	Strong transcription	Fetal Intestine Large	intestine
35	chr12:51116800-51144000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr12:51116800-51144800	Strong transcription	Primary B cells from cord blood	blood
37	chr12:51118200-51143600	Strong transcription	Adipose Nuclei	Adipose
38	chr12:51119000-51139000	Strong transcription	Brain Substantia Nigra	brain
39	chr12:51119200-51144600	Strong transcription	Liver	Liver
40	chr12:51120200-51140400	Strong transcription	Fetal Intestine Small	intestine
41	chr12:51120800-51139000	Strong transcription	Colonic Mucosa	Colon
42	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
43	chr12:51121000-51139000	Strong transcription	Spleen	Spleen
44	chr12:51121000-51140200	Strong transcription	Left Ventricle	heart
45	chr12:51121400-51142200	Strong transcription	GM12878-XiMat	blood
46	chr12:51121400-51145400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:51121600-51142000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:51121600-51142400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:51122000-51139800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:51123000-51142400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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