Variant report

Variant	rs7598716
Chromosome Location	chr2:11830453-11830454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
2	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169592	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10178300	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10180912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11884930	0.84[EUR][1000 genomes]
rs12052681	0.83[EUR][1000 genomes]
rs12465629	0.81[EUR][1000 genomes]
rs12465630	0.81[EUR][1000 genomes]
rs13036247	0.81[EUR][1000 genomes]
rs4328604	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4389306	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4542816	0.83[EUR][1000 genomes]
rs4668739	0.81[EUR][1000 genomes]
rs4669772	0.82[EUR][1000 genomes]
rs4669774	0.84[EUR][1000 genomes]
rs4669775	0.82[EUR][1000 genomes]
rs62116211	0.83[EUR][1000 genomes]
rs6432227	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432228	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432230	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs6432231	0.93[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6736021	0.85[CEU][hapmap]
rs7597788	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11828800-11833400	Weak transcription	Colonic Mucosa	Colon
2	chr2:11828800-11833400	Weak transcription	Pancreas	Pancrea
3	chr2:11828800-11836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:11829000-11833200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:11829000-11833200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:11829000-11833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:11829000-11836600	Weak transcription	Fetal Thymus	thymus
8	chr2:11829000-11836600	Weak transcription	Right Atrium	heart
9	chr2:11829000-11836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:11829200-11831000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:11829200-11831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:11829200-11833000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:11829200-11833000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:11829200-11833000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:11829200-11833000	Weak transcription	Liver	Liver
16	chr2:11829200-11833200	Weak transcription	Placenta	Placenta
17	chr2:11829200-11833200	Weak transcription	K562	blood
18	chr2:11829200-11833400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:11829200-11833400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:11829200-11836000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:11829200-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:11829200-11836600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:11829200-11836600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:11829200-11836800	Weak transcription	HUVEC	blood vessel
25	chr2:11829200-11837000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:11829200-11837000	Weak transcription	HSMM	muscle
27	chr2:11829200-11838400	Weak transcription	Fetal Lung	lung
28	chr2:11829400-11830600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:11829400-11831200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:11829400-11833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:11829400-11833200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:11829400-11833200	Weak transcription	Ovary	ovary
35	chr2:11829400-11833200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:11829400-11833200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:11829400-11833200	Weak transcription	A549	lung
38	chr2:11829400-11833200	Weak transcription	Dnd41	blood
39	chr2:11829400-11833200	Weak transcription	NHDF-Ad	bronchial
40	chr2:11829400-11836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:11829400-11836600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:11829400-11836600	Weak transcription	NHEK	skin
43	chr2:11829400-11836800	Weak transcription	Brain Substantia Nigra	brain
44	chr2:11829400-11836800	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:11829400-11837000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:11829400-11837000	Weak transcription	Fetal Heart	heart
47	chr2:11829400-11841800	Weak transcription	Primary B cells from cord blood	blood
48	chr2:11829600-11831400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:11829600-11831400	Weak transcription	Adipose Nuclei	Adipose
50	chr2:11829600-11833200	Weak transcription	Hela-S3	cervix

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