Variant report

Variant	rs2252595
Chromosome Location	chr12:51041878-51041879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51036681..51039761-chr12:51039769..51043121,4	K562	blood:
2	chr12:50793651..50795723-chr12:51040788..51043017,2	K562	blood:

Variant related genes	Relation type
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10506296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10735827	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs10747592	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs10783366	0.87[JPT][hapmap]
rs10783368	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10783388	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs10783390	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs10876041	0.86[JPT][hapmap]
rs10876044	0.86[JPT][hapmap]
rs10876048	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10876054	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10876057	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10876082	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs10876083	0.86[EUR][1000 genomes]
rs10876088	0.86[EUR][1000 genomes]
rs11169422	0.81[EUR][1000 genomes]
rs11169551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap]
rs11169553	0.86[EUR][1000 genomes]
rs12099511	0.81[EUR][1000 genomes]
rs12099615	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs12296379	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12307602	0.81[EUR][1000 genomes]
rs12320201	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13328926	0.91[EUR][1000 genomes]
rs1402693	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1521515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1521517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1561422	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17119774	0.81[EUR][1000 genomes]
rs17124672	0.81[EUR][1000 genomes]
rs17124888	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17124907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1815010	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1996750	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2246840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2684886	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2684890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2684891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2684902	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2684906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700486	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28414775	0.91[EUR][1000 genomes]
rs28479152	0.91[EUR][1000 genomes]
rs2947617	0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4129355	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4143663	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4257057	0.81[EUR][1000 genomes]
rs4306347	0.91[EUR][1000 genomes]
rs4450234	0.81[EUR][1000 genomes]
rs4517607	0.91[EUR][1000 genomes]
rs4562889	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768887	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768894	0.83[AMR][1000 genomes]
rs4768909	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768915	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4768920	0.86[EUR][1000 genomes]
rs56671180	0.81[EUR][1000 genomes]
rs56753963	0.91[EUR][1000 genomes]
rs56818625	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57283487	0.81[EUR][1000 genomes]
rs57293958	0.81[EUR][1000 genomes]
rs57328764	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57512759	0.91[EUR][1000 genomes]
rs57811009	0.81[EUR][1000 genomes]
rs57828015	0.81[EUR][1000 genomes]
rs58301497	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58500867	0.81[EUR][1000 genomes]
rs58888905	0.81[EUR][1000 genomes]
rs58916974	0.81[EUR][1000 genomes]
rs58943330	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59194948	0.91[EUR][1000 genomes]
rs59284993	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59683461	0.91[EUR][1000 genomes]
rs59696942	0.81[EUR][1000 genomes]
rs59968707	0.81[EUR][1000 genomes]
rs60010359	0.81[EUR][1000 genomes]
rs60198651	0.81[EUR][1000 genomes]
rs60201334	0.81[EUR][1000 genomes]
rs60239257	0.91[EUR][1000 genomes]
rs60242613	0.81[EUR][1000 genomes]
rs60396677	0.81[EUR][1000 genomes]
rs60420087	0.81[EUR][1000 genomes]
rs60494920	0.91[EUR][1000 genomes]
rs60743903	0.81[EUR][1000 genomes]
rs60908906	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61578731	0.81[EUR][1000 genomes]
rs6580766	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6580767	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs6580768	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs6580770	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs7131993	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7132443	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135222	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7301125	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7302749	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7303202	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7304262	0.81[EUR][1000 genomes]
rs7306387	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7308872	0.84[ASN][1000 genomes]
rs7310507	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7487645	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs7953880	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs7955176	0.81[EUR][1000 genomes]
rs7955310	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7959129	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7969251	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7978443	0.91[EUR][1000 genomes]
rs7979184	0.86[EUR][1000 genomes]
rs7979474	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs829125	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap]
rs865490	0.82[EUR][1000 genomes]
rs939631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs951591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634264	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9804759	0.87[EUR][1000 genomes]

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
2	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
3	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
4	chr12:51017800-51042800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:51019600-51046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:51022000-51065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:51022000-51068400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:51022400-51055200	Weak transcription	Ovary	ovary
9	chr12:51022600-51054000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:51022600-51064600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:51028400-51092400	Weak transcription	Gastric	stomach
12	chr12:51030800-51064800	Weak transcription	Spleen	Spleen
13	chr12:51030800-51065000	Weak transcription	Left Ventricle	heart
14	chr12:51031400-51042800	Weak transcription	Fetal Brain Female	brain
15	chr12:51031400-51058800	Weak transcription	Small Intestine	intestine
16	chr12:51031400-51064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:51031800-51068200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:51032000-51043200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:51032200-51065000	Weak transcription	Fetal Lung	lung
20	chr12:51032200-51069000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:51032600-51055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:51034200-51053400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:51035600-51053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:51035600-51054000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:51035600-51064600	Weak transcription	Lung	lung
26	chr12:51036000-51068200	Weak transcription	Thymus	Thymus
27	chr12:51036200-51045200	Weak transcription	HUVEC	blood vessel
28	chr12:51036200-51052600	Weak transcription	Dnd41	blood
29	chr12:51036200-51052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:51036200-51054000	Weak transcription	Fetal Thymus	thymus
31	chr12:51036200-51054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:51036200-51054400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:51036200-51055400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:51036200-51057800	Weak transcription	Hela-S3	cervix
35	chr12:51036200-51068200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:51036400-51044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:51036800-51070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:51037000-51058200	Weak transcription	Fetal Intestine Small	intestine
39	chr12:51037200-51054000	Weak transcription	Adipose Nuclei	Adipose
40	chr12:51037600-51053000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:51037600-51054000	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:51038000-51053800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:51038000-51064800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:51038200-51053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:51038200-51054000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:51038200-51055200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:51038200-51055400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:51038400-51048200	Weak transcription	HepG2	liver
49	chr12:51038400-51053600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:51038600-51043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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