Variant report

Variant	rs2755253
Chromosome Location	chr1:67470843-67470844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67466588..67469246-chr1:67470517..67473070,3	K562	blood:
2	chr1:67465957..67468750-chr1:67469408..67472017,2	K562	blood:
3	chr1:67462933..67465892-chr1:67469439..67471276,2	K562	blood:
4	chr1:67468960..67471797-chr1:67482743..67484968,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10749766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10789219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10889651	0.91[ASN][1000 genomes]
rs1118392	0.90[JPT][hapmap]
rs11208971	0.80[ASN][1000 genomes]
rs11208973	0.80[ASN][1000 genomes]
rs11208974	0.80[ASN][1000 genomes]
rs11208976	0.85[EUR][1000 genomes]
rs11208979	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs1121824	0.96[ASN][1000 genomes]
rs1137656	0.90[CEU][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs12039172	0.88[EUR][1000 genomes]
rs12041926	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs12044278	0.89[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs12044492	0.89[EUR][1000 genomes]
rs12131222	0.90[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs12132068	0.88[EUR][1000 genomes]
rs12132532	0.89[EUR][1000 genomes]
rs12137403	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs12143044	0.89[EUR][1000 genomes]
rs12740884	0.89[EUR][1000 genomes]
rs12742428	0.80[ASN][1000 genomes]
rs1535365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1570838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17497828	0.90[CEU][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs1886686	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs1925408	0.90[CEU][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs1925409	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1925410	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1925411	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs1925412	0.83[EUR][1000 genomes]
rs1925413	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2009311	0.91[EUR][1000 genomes]
rs2009319	0.91[EUR][1000 genomes]
rs2025608	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2065000	0.90[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs2065001	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs2065002	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs2182143	0.90[CEU][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2755240	0.91[EUR][1000 genomes]
rs2755241	0.96[ASN][1000 genomes]
rs2755242	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs2755243	0.96[ASN][1000 genomes]
rs2755244	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs2755245	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs2755246	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs2755248	0.87[EUR][1000 genomes]
rs2755249	0.87[EUR][1000 genomes]
rs2755250	0.90[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs2755251	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2755254	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs2755256	0.89[CEU][hapmap]
rs2755266	0.91[ASN][1000 genomes]
rs2755270	0.96[ASN][1000 genomes]
rs2755271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2815348	0.92[EUR][1000 genomes]
rs2815349	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs2815350	0.85[EUR][1000 genomes]
rs2815351	0.90[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs2815352	0.91[EUR][1000 genomes]
rs2815353	0.91[EUR][1000 genomes]
rs2815355	0.96[ASN][1000 genomes]
rs2815357	0.87[EUR][1000 genomes]
rs2815359	0.89[CEU][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs2815360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2815361	0.87[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs2815362	0.91[ASN][1000 genomes]
rs2815363	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2815364	0.91[ASN][1000 genomes]
rs2815365	0.91[ASN][1000 genomes]
rs2815366	0.91[ASN][1000 genomes]
rs2815367	0.91[ASN][1000 genomes]
rs2815368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2815370	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs2815371	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs2815374	0.88[ASN][1000 genomes]
rs2815375	0.80[ASN][1000 genomes]
rs2985794	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2985795	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2985797	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2985810	0.81[EUR][1000 genomes]
rs2985811	0.81[EUR][1000 genomes]
rs2985816	0.82[EUR][1000 genomes]
rs2985817	0.83[EUR][1000 genomes]
rs2985818	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2985821	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2985822	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2985824	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2985825	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2985826	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs2985830	0.83[EUR][1000 genomes]
rs3008848	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs3008852	0.82[EUR][1000 genomes]
rs3008853	0.90[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs3008854	0.90[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs3008855	0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs3008856	0.82[EUR][1000 genomes]
rs3008858	0.90[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs3008859	0.83[EUR][1000 genomes]
rs3008860	0.83[EUR][1000 genomes]
rs3008865	0.83[EUR][1000 genomes]
rs3008870	0.83[EUR][1000 genomes]
rs3008871	0.90[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs3008873	0.90[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs3008874	0.85[EUR][1000 genomes]
rs3008875	0.85[EUR][1000 genomes]
rs3008892	0.90[JPT][hapmap]
rs3008894	0.81[EUR][1000 genomes]
rs34367328	0.88[EUR][1000 genomes]
rs35365746	0.88[EUR][1000 genomes]
rs3736905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3929738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4388680	0.81[EUR][1000 genomes]
rs4486425	0.91[ASN][1000 genomes]
rs4582760	0.93[ASN][1000 genomes]
rs4620509	0.90[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs4655658	0.90[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs4655660	0.80[ASN][1000 genomes]
rs4655661	0.80[ASN][1000 genomes]
rs4655662	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs4655663	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs58680688	0.88[EUR][1000 genomes]
rs6657065	0.80[ASN][1000 genomes]
rs6673462	0.89[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs72673725	0.85[EUR][1000 genomes]
rs7511948	0.85[EUR][1000 genomes]
rs912797	0.90[CEU][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs975451	0.91[EUR][1000 genomes]
rs975452	0.91[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2755253	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL
rs2755253	MIER1	Cis_1M	lymphoblastoid	RTeQTL
rs2755253	WDR78	cis	cerebellum	SCAN
rs2755253	SLC35D1	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:67448800-67484200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:67449800-67475600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
8	chr1:67452800-67471200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:67453200-67473200	Weak transcription	Colonic Mucosa	Colon
10	chr1:67453200-67484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:67454800-67483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:67454800-67484200	Weak transcription	NHDF-Ad	bronchial
13	chr1:67455000-67484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:67455000-67484200	Weak transcription	GM12878-XiMat	blood
15	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
16	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
17	chr1:67455600-67484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:67455800-67478200	Strong transcription	Liver	Liver
19	chr1:67455800-67485600	Weak transcription	HMEC	breast
20	chr1:67456200-67475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:67456400-67484800	Weak transcription	HUVEC	blood vessel
22	chr1:67460000-67485200	Weak transcription	Esophagus	oesophagus
23	chr1:67461200-67478600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:67461600-67479200	Strong transcription	Fetal Intestine Large	intestine
25	chr1:67462000-67474200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:67462000-67478400	Strong transcription	Fetal Thymus	thymus
27	chr1:67462000-67480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:67462200-67484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:67462400-67484200	Weak transcription	Ovary	ovary
30	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:67462600-67479400	Weak transcription	NHEK	skin
32	chr1:67463800-67471200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:67463800-67476400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:67463800-67478000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:67464200-67471600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:67464200-67478000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:67464200-67478800	Strong transcription	Primary B cells from cord blood	blood
38	chr1:67465000-67472400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:67465000-67484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:67465200-67471200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:67465600-67472200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:67465600-67474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:67466200-67476000	Strong transcription	Dnd41	blood
46	chr1:67466200-67478600	Strong transcription	Primary T cells from cord blood	blood
47	chr1:67466800-67471200	Strong transcription	Thymus	Thymus
48	chr1:67466800-67471200	Strong transcription	HepG2	liver
49	chr1:67466800-67484200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:67467000-67471200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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