Variant report

Variant	rs10168314
Chromosome Location	chr2:208738339-208738340
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	chr2:208731749..208734396-chr2:208737069..208739252,3	K562	blood:
2	chr2:208671482..208672984-chr2:208737961..208740774,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10167948	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10193472	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12328554	1.00[AFR][1000 genomes]
rs13422757	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208693600-208772400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:208694600-208763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:208713000-208742000	Weak transcription	Fetal Lung	lung
4	chr2:208713000-208744400	Weak transcription	Dnd41	blood
5	chr2:208713600-208762200	Weak transcription	Aorta	Aorta
6	chr2:208715600-208744400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:208720400-208744000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:208720400-208757200	Weak transcription	Ovary	ovary
9	chr2:208720600-208744200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:208721600-208761800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:208725800-208750200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:208726000-208740600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:208726800-208744200	Weak transcription	Lung	lung
14	chr2:208727800-208749400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:208730200-208740200	Weak transcription	Small Intestine	intestine
16	chr2:208732000-208790400	Weak transcription	Fetal Thymus	thymus
17	chr2:208733800-208760800	Weak transcription	Primary B cells from cord blood	blood
18	chr2:208734600-208744200	Weak transcription	Fetal Heart	heart
19	chr2:208735000-208743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:208735200-208744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:208735200-208764400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:208735400-208740200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:208735400-208740800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:208735400-208741400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:208735400-208744200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:208735800-208740200	Weak transcription	Liver	Liver
27	chr2:208735800-208740800	Weak transcription	Pancreas	Pancrea
28	chr2:208735800-208744400	Weak transcription	Left Ventricle	heart
29	chr2:208736400-208740200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:208736400-208744000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:208736800-208742000	Weak transcription	Fetal Kidney	kidney
32	chr2:208737000-208741200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:208737000-208741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:208737000-208743600	Weak transcription	HSMM	muscle
35	chr2:208737000-208744000	Weak transcription	A549	lung
36	chr2:208737600-208738600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:208737600-208738800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:208737600-208740200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:208737600-208744200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:208737800-208738400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:208737800-208738600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:208737800-208738800	Enhancers	HepG2	liver
43	chr2:208737800-208740400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:208738000-208738800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:208738000-208738800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:208738000-208739000	Enhancers	Fetal Intestine Small	intestine
47	chr2:208738200-208738400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:208738200-208738600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:208738200-208738800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:208738200-208739000	Enhancers	Fetal Intestine Large	intestine

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