Variant report

Variant	rs2399420
Chromosome Location	chr3:112069765-112069766
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2280462	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6438068	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6774405	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6783196	1.00[YRI][hapmap]
rs7619941	1.00[CEU][hapmap];0.97[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	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112052800-112076200	Weak transcription	Right Ventricle	heart
2	chr3:112053200-112076400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:112054800-112076800	Weak transcription	Lung	lung
4	chr3:112054800-112083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:112055600-112080200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:112055800-112076400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:112056600-112076400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:112058800-112069800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:112059600-112075000	Strong transcription	Fetal Thymus	thymus
10	chr3:112061200-112083000	Weak transcription	Colonic Mucosa	Colon
11	chr3:112061400-112076000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr3:112062400-112083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:112062600-112076600	Strong transcription	Primary B cells from cord blood	blood
14	chr3:112062800-112074600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:112063400-112074200	Strong transcription	Brain Germinal Matrix	brain
16	chr3:112064000-112076800	Weak transcription	Left Ventricle	heart
17	chr3:112064200-112074200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:112064200-112076800	Strong transcription	Placenta	Placenta
19	chr3:112064400-112075000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:112064400-112076800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:112064800-112069800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:112064800-112077200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:112065600-112079600	Weak transcription	Fetal Intestine Large	intestine
24	chr3:112066000-112089800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:112066200-112073400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:112066600-112071000	Enhancers	Brain Substantia Nigra	brain
27	chr3:112066600-112073600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:112066800-112072800	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:112066800-112076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:112066800-112076800	Weak transcription	Ovary	ovary
31	chr3:112066800-112077000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:112067000-112079400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:112067200-112070200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:112067200-112070400	Weak transcription	Primary T cells from cord blood	blood
35	chr3:112067200-112070600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:112067200-112070600	Weak transcription	Fetal Brain Male	brain
37	chr3:112067200-112073600	Strong transcription	Fetal Lung	lung
38	chr3:112067200-112075400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:112067200-112076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:112067200-112079800	Weak transcription	Fetal Stomach	stomach
41	chr3:112067200-112080400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr3:112067400-112070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:112067400-112070200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:112067400-112071000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:112067400-112072200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:112067400-112076800	Weak transcription	Aorta	Aorta
47	chr3:112067600-112070600	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:112067600-112070800	Strong transcription	Fetal Brain Female	brain
49	chr3:112067800-112071400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:112068000-112070400	Weak transcription	H9 Cell Line	embryonic stem cell

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