Variant report

Variant	rs2084233
Chromosome Location	chr2:178331206-178331207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10165785	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10170546	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10170667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10171135	0.86[YRI][hapmap]
rs10194648	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201153	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10497501	0.90[CEU][hapmap]
rs10497502	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10497503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497508	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10803909	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10930792	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688684	0.90[JPT][hapmap]
rs11889272	0.87[YRI][hapmap]
rs11893448	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12104588	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12469386	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12474344	0.85[JPT][hapmap]
rs12612857	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs12615367	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs12616093	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12616443	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12618139	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12693120	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12990594	0.89[JPT][hapmap]
rs12990729	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12996447	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13000048	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13004955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022567	0.85[JPT][hapmap]
rs13027959	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1348848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1348849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1348850	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1374437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405713	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs1453370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453373	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1548067	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs16865203	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs16865216	0.84[ASN][1000 genomes]
rs16865229	0.84[ASN][1000 genomes]
rs16865291	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs16865328	0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs16865331	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1901824	0.81[ASN][1000 genomes]
rs1901825	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1901826	0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap]
rs1901829	0.83[ASN][1000 genomes]
rs1979058	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2034678	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2060929	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121430	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2166558	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2197611	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364845	0.81[ASN][1000 genomes]
rs2364853	0.83[ASN][1000 genomes]
rs2364854	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3213945	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769995	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3769996	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs3769997	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3770002	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3813259	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902850	1.00[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4243388	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4341974	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4528793	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs4893821	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4893822	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893823	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4893824	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893932	0.81[ASN][1000 genomes]
rs4893934	0.81[ASN][1000 genomes]
rs4893935	0.89[JPT][hapmap]
rs4893936	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4893938	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893941	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4893944	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893945	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4893946	0.89[ASN][1000 genomes]
rs4893950	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893951	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893954	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4893957	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4893959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893961	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893962	0.90[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4893965	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs56942680	0.80[ASN][1000 genomes]
rs57273542	0.84[ASN][1000 genomes]
rs57295810	0.85[ASN][1000 genomes]
rs57527255	0.86[ASN][1000 genomes]
rs57541536	0.86[ASN][1000 genomes]
rs57733896	0.84[ASN][1000 genomes]
rs57948641	0.86[ASN][1000 genomes]
rs58297927	0.86[ASN][1000 genomes]
rs58483300	0.80[ASN][1000 genomes]
rs59111239	0.84[ASN][1000 genomes]
rs59421055	0.82[ASN][1000 genomes]
rs59504156	0.85[ASN][1000 genomes]
rs60642012	0.82[ASN][1000 genomes]
rs60670838	0.84[ASN][1000 genomes]
rs60733259	0.80[ASN][1000 genomes]
rs6433670	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433673	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737342	0.90[YRI][hapmap]
rs6742951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6752528	0.90[YRI][hapmap]
rs7565022	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573763	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586051	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7587604	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7591807	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7604673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7606235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7607450	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs952746	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9679607	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789582	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2084233	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:178298800-178331600	Weak transcription	NHDF-Ad	bronchial
3	chr2:178298800-178336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:178299400-178357800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:178300800-178331400	Weak transcription	Psoas Muscle	Psoas
7	chr2:178301600-178339800	Weak transcription	Small Intestine	intestine
8	chr2:178301800-178339200	Weak transcription	Hela-S3	cervix
9	chr2:178304400-178338800	Weak transcription	HMEC	breast
10	chr2:178313800-178331400	Weak transcription	NH-A	brain
11	chr2:178314000-178331600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:178314400-178331600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:178316000-178333200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:178316200-178345600	Weak transcription	Fetal Brain Male	brain
15	chr2:178320000-178336200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:178325000-178335800	Strong transcription	HepG2	liver
17	chr2:178325800-178331400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:178326600-178332200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:178326800-178332200	Weak transcription	Stomach Mucosa	stomach
20	chr2:178328000-178331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:178328000-178332000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:178328400-178331600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:178328800-178331400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:178329000-178331400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr2:178329200-178331400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:178329200-178331600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:178329200-178331600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:178329200-178331600	Weak transcription	NHLF	lung
29	chr2:178329400-178331400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:178329400-178331400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:178329400-178331600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:178329400-178331600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:178329400-178331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:178329400-178331600	ZNF genes & repeats	Dnd41	blood
35	chr2:178329400-178331800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr2:178329400-178331800	Strong transcription	Primary B cells from cord blood	blood
37	chr2:178329400-178331800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr2:178329400-178332000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:178329400-178332400	Strong transcription	A549	lung
40	chr2:178329600-178332000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr2:178329800-178331400	Strong transcription	Primary T cells from cord blood	blood
42	chr2:178329800-178331400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr2:178329800-178331400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:178329800-178331400	ZNF genes & repeats	Ovary	ovary
45	chr2:178329800-178331400	ZNF genes & repeats	Thymus	Thymus
46	chr2:178329800-178331600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:178329800-178331600	Strong transcription	Colonic Mucosa	Colon
48	chr2:178329800-178331800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:178329800-178331800	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr2:178330000-178331400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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