Variant report

Variant	rs4371339
Chromosome Location	chr2:11829765-11829766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
2	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
3	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
4	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
5	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:
6	chr2:11617820..11619664-chr2:11828813..11830346,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10929766	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11684640	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11684644	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11687567	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691889	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11893735	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12469060	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3923671	0.84[ASN][1000 genomes]
rs3924929	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4366872	0.84[ASN][1000 genomes]
rs4517949	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4614906	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4640359	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4640362	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55864809	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56387825	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58026116	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59341236	0.83[ASN][1000 genomes]
rs60118851	0.84[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	chr2:11829200-11830200	Enhancers	Psoas Muscle	Psoas
11	chr2:11829200-11831000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:11829200-11831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:11829200-11833000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:11829200-11833000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:11829200-11833000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:11829200-11833000	Weak transcription	Liver	Liver
17	chr2:11829200-11833200	Weak transcription	Placenta	Placenta
18	chr2:11829200-11833200	Weak transcription	K562	blood
19	chr2:11829200-11833400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:11829200-11833400	Weak transcription	Fetal Intestine Large	intestine
21	chr2:11829200-11836000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:11829200-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11829200-11836600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:11829200-11836600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:11829200-11836800	Weak transcription	HUVEC	blood vessel
26	chr2:11829200-11837000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:11829200-11837000	Weak transcription	HSMM	muscle
28	chr2:11829200-11838400	Weak transcription	Fetal Lung	lung
29	chr2:11829400-11830600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:11829400-11831200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:11829400-11833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:11829400-11833200	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:11829400-11833200	Weak transcription	Ovary	ovary
36	chr2:11829400-11833200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:11829400-11833200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:11829400-11833200	Weak transcription	A549	lung
39	chr2:11829400-11833200	Weak transcription	Dnd41	blood
40	chr2:11829400-11833200	Weak transcription	NHDF-Ad	bronchial
41	chr2:11829400-11836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:11829400-11836600	Weak transcription	Brain Anterior Caudate	brain
43	chr2:11829400-11836600	Weak transcription	NHEK	skin
44	chr2:11829400-11836800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:11829400-11836800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:11829400-11837000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:11829400-11837000	Weak transcription	Fetal Heart	heart
48	chr2:11829400-11841800	Weak transcription	Primary B cells from cord blood	blood
49	chr2:11829600-11830000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:11829600-11831400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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