Variant report

Variant	rs6758029
Chromosome Location	chr2:183833514-183833515
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	chr2:183831876-183833778	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:183826876..183828751-chr2:183831035..183834010,2	K562	blood:
2	chr2:183817340..183818993-chr2:183832231..183833794,2	MCF-7	breast:
3	chr2:183816933..183819427-chr2:183831655..183834604,2	K562	blood:

Variant related genes	Relation type
NCKAP1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10189505	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022336	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931050	1.00[ASN][1000 genomes]
rs12693330	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021649	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670041	1.00[MEX][hapmap]
rs2256676	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675072	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2675075	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675111	0.93[EUR][1000 genomes]
rs2675112	0.97[EUR][1000 genomes]
rs2705742	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705744	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705745	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705746	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705749	0.90[EUR][1000 genomes]
rs2705750	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705752	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705755	0.93[EUR][1000 genomes]
rs2944358	1.00[EUR][1000 genomes]
rs2952357	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233770	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4271733	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334455	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4363993	1.00[ASN][1000 genomes]
rs4381749	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591313	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666601	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666866	1.00[ASN][1000 genomes]
rs4666870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666872	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58475882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433999	1.00[EUR][1000 genomes]
rs6706591	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720664	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720804	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742781	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678423	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
4	chr2:183788200-183845600	Weak transcription	Lung	lung
5	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
7	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:183812000-183839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:183812200-183838200	Weak transcription	Small Intestine	intestine
14	chr2:183812200-183842000	Weak transcription	Right Ventricle	heart
15	chr2:183812200-183874800	Weak transcription	Gastric	stomach
16	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
18	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:183814800-183845600	Weak transcription	Ovary	ovary
20	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:183820000-183838600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:183820000-183850800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:183821600-183841200	Weak transcription	Hela-S3	cervix
24	chr2:183822400-183841800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:183822600-183837200	Weak transcription	Fetal Kidney	kidney
26	chr2:183824200-183839400	Weak transcription	HSMMtube	muscle
27	chr2:183825400-183834800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:183825600-183834000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:183825600-183834000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:183825600-183835400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:183826200-183833800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:183826200-183833800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:183826400-183834000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:183826400-183834200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:183826400-183834600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:183826600-183833600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:183826600-183833800	Strong transcription	HSMM	muscle
38	chr2:183826600-183833800	Strong transcription	HUVEC	blood vessel
39	chr2:183826600-183833800	Strong transcription	NHDF-Ad	bronchial
40	chr2:183826600-183834000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:183826600-183834200	Strong transcription	Osteobl	bone
42	chr2:183826600-183834800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:183827000-183836200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:183827000-183859000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:183827200-183834600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:183827200-183837000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:183827200-183849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:183827600-183834600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:183827600-183836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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