Variant report

Variant	rs6434400
Chromosome Location	chr2:191442468-191442469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191398265..191400874-chr2:191441463..191447520,6	MCF-7	breast:
2	chr2:191441736..191445180-chr2:191512153..191514967,3	K562	blood:
3	chr2:191435113..191437081-chr2:191440439..191443139,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction
ENSG00000138386	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10451566	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11897266	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12464923	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12472240	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12473460	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12613365	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12615925	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619125	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12619560	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12621493	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622496	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693576	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12987797	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013848	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13019278	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13028201	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13029743	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34274882	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34417560	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34825614	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36055519	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3811609	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073873	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4129081	0.86[EUR][1000 genomes]
rs4264585	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4324342	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4853508	0.87[EUR][1000 genomes]
rs4853512	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4853709	0.82[EUR][1000 genomes]
rs4853718	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4853720	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853721	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55754136	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55987230	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6707773	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6711006	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72911109	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7560318	0.87[EUR][1000 genomes]
rs7601745	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7608180	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191427200-191443000	Weak transcription	Right Ventricle	heart
3	chr2:191435400-191443000	Weak transcription	Left Ventricle	heart
4	chr2:191436800-191442800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:191436800-191443000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:191437400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:191438400-191442600	Weak transcription	Stomach Mucosa	stomach
9	chr2:191438400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:191438400-191442800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:191438400-191442800	Weak transcription	Fetal Lung	lung
12	chr2:191438400-191442800	Weak transcription	Small Intestine	intestine
13	chr2:191439200-191442600	Weak transcription	Fetal Stomach	stomach
14	chr2:191439400-191442600	Weak transcription	HMEC	breast
15	chr2:191439400-191442800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:191439800-191442800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:191439800-191443000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:191440200-191442800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:191440600-191442800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:191440600-191443000	Weak transcription	Fetal Thymus	thymus
21	chr2:191440600-191443400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:191440800-191442600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:191440800-191443000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:191440800-191445200	Enhancers	Fetal Heart	heart
25	chr2:191441000-191442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:191441000-191442800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:191441000-191442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:191441000-191442800	Enhancers	A549	lung
29	chr2:191441200-191442800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:191441200-191443000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:191441400-191442800	Enhancers	Hela-S3	cervix
32	chr2:191441400-191443000	Enhancers	Colon Smooth Muscle	Colon
33	chr2:191441400-191443400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:191441400-191443600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:191441400-191444000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:191441600-191442800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:191441800-191442600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:191441800-191442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:191441800-191442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:191441800-191442800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:191441800-191442800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:191441800-191443000	Weak transcription	Esophagus	oesophagus
43	chr2:191441800-191443400	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:191441800-191443600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr2:191441800-191444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr2:191442000-191442800	Weak transcription	K562	blood
47	chr2:191442000-191442800	Enhancers	NHEK	skin
48	chr2:191442000-191443000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:191442200-191442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:191442200-191442800	Weak transcription	Spleen	Spleen

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