Variant report

Variant	rs6436943
Chromosome Location	chr2:231357373-231357374
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	chr2:231356731..231359300-chr2:231361118..231363948,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13009809	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13020940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021299	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035313	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559989	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16827319	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34617471	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35217514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35393970	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35658621	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36126131	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36144939	0.89[ASN][1000 genomes]
rs4402748	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705605	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs6740283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751402	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[ASN][1000 genomes]
rs6759377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6436943	SP100	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231334800-231358400	Weak transcription	Fetal Stomach	stomach
2	chr2:231335000-231359000	Weak transcription	NHLF	lung
3	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
4	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
5	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
6	chr2:231337800-231359200	Weak transcription	HMEC	breast
7	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:231340000-231358800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:231340600-231361000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:231341000-231361000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:231345400-231359200	Weak transcription	HSMMtube	muscle
12	chr2:231345600-231357600	Weak transcription	NH-A	brain
13	chr2:231345600-231358200	Weak transcription	NHEK	skin
14	chr2:231345600-231358400	Weak transcription	Small Intestine	intestine
15	chr2:231346600-231358200	Weak transcription	Osteobl	bone
16	chr2:231346600-231359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:231346600-231370000	Weak transcription	K562	blood
18	chr2:231347200-231363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:231348400-231361400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:231348800-231359600	Weak transcription	HSMM	muscle
21	chr2:231350600-231357800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:231350600-231360000	Strong transcription	Primary T cells from cord blood	blood
23	chr2:231350600-231361000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:231351200-231358400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:231353200-231360000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:231353400-231357600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:231353400-231358600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:231354600-231360800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:231354600-231361000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:231354800-231361200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:231355000-231357400	Strong transcription	Ovary	ovary
33	chr2:231355000-231360400	Strong transcription	Primary B cells from cord blood	blood
34	chr2:231355200-231357400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:231355200-231357400	Strong transcription	Thymus	Thymus
36	chr2:231355200-231360200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:231355200-231361000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
39	chr2:231355400-231357600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:231355600-231357400	ZNF genes & repeats	Liver	Liver
41	chr2:231355600-231357400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:231355600-231357600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:231355600-231360600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:231356000-231357400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr2:231356000-231362200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:231356000-231363400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:231356200-231357600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:231356200-231369200	Strong transcription	Fetal Thymus	thymus

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