Variant report

Variant	rs860486
Chromosome Location	chr2:30744435-30744436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30742633..30745818-chr2:30753474..30756226,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1252624	0.81[EUR][1000 genomes]
rs1252625	0.81[EUR][1000 genomes]
rs1252646	0.81[EUR][1000 genomes]
rs2167969	0.80[EUR][1000 genomes]
rs829618	0.81[EUR][1000 genomes]
rs829622	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs829631	0.81[AMR][1000 genomes]
rs829634	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs829659	0.84[AMR][1000 genomes]
rs844194	0.81[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:30736800-30752400	Weak transcription	Psoas Muscle	Psoas
5	chr2:30738000-30750400	Weak transcription	Liver	Liver
6	chr2:30738000-30757000	Weak transcription	Ovary	ovary
7	chr2:30738200-30750000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:30738200-30750800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:30738200-30750800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:30738200-30751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:30738200-30752400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:30738200-30758200	Weak transcription	Right Ventricle	heart
13	chr2:30738400-30748600	Weak transcription	Fetal Kidney	kidney
14	chr2:30738400-30756200	Weak transcription	Hela-S3	cervix
15	chr2:30741000-30745200	Weak transcription	Fetal Heart	heart
16	chr2:30742000-30748400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:30742800-30745400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:30742800-30748400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:30743000-30745200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:30743000-30748400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:30743000-30748600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:30743000-30748600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:30743000-30748600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:30743000-30750200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:30743000-30750400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:30743000-30750400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:30743000-30750400	Weak transcription	NHLF	lung
28	chr2:30743000-30752200	Weak transcription	HSMMtube	muscle
29	chr2:30743000-30754800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:30743000-30756000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:30743000-30756000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:30743000-30756000	Weak transcription	HepG2	liver
33	chr2:30743000-30757000	Weak transcription	Left Ventricle	heart
34	chr2:30743000-30758200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:30743000-30758200	Weak transcription	Pancreas	Pancrea
36	chr2:30743000-30758400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:30743000-30758600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:30743000-30759000	Weak transcription	Gastric	stomach
39	chr2:30743000-30759800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:30743000-30759800	Weak transcription	Esophagus	oesophagus
41	chr2:30743000-30761000	Weak transcription	NHEK	skin
42	chr2:30743000-30763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:30743000-30764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:30743000-30764600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:30743000-30767400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:30743000-30768000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:30743200-30745600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:30743200-30746200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:30743200-30748200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:30743200-30748400	Weak transcription	Primary B cells from peripheral blood	blood

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