Variant report

Variant	rs4682083
Chromosome Location	chr3:111808110-111808111
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	chr3:111803684..111807677-chr3:111807818..111813217,8	K562	blood:

Variant related genes	Relation type
ENSG00000114529	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1492488	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1492490	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859182	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859186	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859188	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859190	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859214	0.86[ASN][1000 genomes]
rs16859217	0.86[ASN][1000 genomes]
rs16859220	0.86[ASN][1000 genomes]
rs16859233	0.86[ASN][1000 genomes]
rs16859259	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859261	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs186866	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs192095	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28722116	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340152	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340153	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340155	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340157	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340158	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340171	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340173	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340174	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs340175	0.86[ASN][1000 genomes]
rs34879456	0.92[EUR][1000 genomes]
rs41270437	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs57344127	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59459588	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61645341	0.92[EUR][1000 genomes]
rs6790318	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6790375	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6793177	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6793189	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6803848	0.92[EUR][1000 genomes]
rs7617986	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7631566	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7649379	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9288936	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9814494	0.96[EUR][1000 genomes]
rs9816581	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9822776	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9847052	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9867907	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9874686	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9880044	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9881049	0.92[EUR][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	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111805800-111809400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:111806000-111808800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:111806000-111809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:111806000-111821600	Weak transcription	Lung	lung
5	chr3:111806400-111809000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:111806400-111809200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:111806400-111809200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:111806400-111809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:111806400-111809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:111806400-111809600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:111806400-111811200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:111806400-111811200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:111806400-111811400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:111806800-111808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:111806800-111808800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:111806800-111808800	Weak transcription	Esophagus	oesophagus
17	chr3:111806800-111808800	Weak transcription	Left Ventricle	heart
18	chr3:111806800-111809200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:111806800-111809400	Weak transcription	Fetal Lung	lung
20	chr3:111806800-111811200	Weak transcription	NHLF	lung
21	chr3:111806800-111811400	Weak transcription	Gastric	stomach
22	chr3:111806800-111813600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:111806800-111816400	Weak transcription	Aorta	Aorta
24	chr3:111807000-111808600	Weak transcription	Colonic Mucosa	Colon
25	chr3:111807000-111808800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:111807000-111808800	Weak transcription	Fetal Intestine Large	intestine
27	chr3:111807000-111808800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:111807000-111808800	Weak transcription	HSMMtube	muscle
29	chr3:111807000-111809000	Weak transcription	HUVEC	blood vessel
30	chr3:111807000-111809400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:111807000-111809400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:111807000-111809400	Weak transcription	HSMM	muscle
33	chr3:111807000-111809600	Weak transcription	K562	blood
34	chr3:111807000-111811000	Weak transcription	Osteobl	bone
35	chr3:111807000-111811200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:111807000-111811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:111807000-111811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:111807000-111811200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:111807000-111811200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:111807000-111811200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:111807000-111811200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:111807000-111811400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:111807000-111811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:111807000-111811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:111807000-111811400	Enhancers	Stomach Mucosa	stomach
46	chr3:111807000-111812200	Enhancers	Fetal Intestine Small	intestine
47	chr3:111807000-111816200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:111807200-111808800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:111807200-111808800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:111807200-111808800	Weak transcription	Right Ventricle	heart

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