Variant report

Variant	rs34310142
Chromosome Location	chr2:63223801-63223802
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	chr2:63217818..63220476-chr2:63223750..63226013,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10166922	1.00[CHD][hapmap]
rs4633915	1.00[CHD][hapmap]
rs6729573	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63151400-63272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63167600-63256000	Weak transcription	HSMMtube	muscle
3	chr2:63167800-63225800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:63169600-63228800	Weak transcription	GM12878-XiMat	blood
5	chr2:63169800-63237000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:63170400-63255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:63171800-63233000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:63173800-63225800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:63177800-63226800	Weak transcription	Hela-S3	cervix
10	chr2:63182000-63228800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:63190400-63228800	Weak transcription	Gastric	stomach
12	chr2:63197200-63225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:63197600-63234800	Strong transcription	HepG2	liver
14	chr2:63197800-63227800	Strong transcription	Liver	Liver
15	chr2:63199800-63258200	Weak transcription	Lung	lung
16	chr2:63200800-63239400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:63203600-63225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:63204800-63225200	Weak transcription	Spleen	Spleen
19	chr2:63204800-63229800	Weak transcription	Thymus	Thymus
20	chr2:63205000-63238200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:63205800-63232400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:63206000-63227200	Weak transcription	Right Ventricle	heart
23	chr2:63206200-63224800	Strong transcription	A549	lung
24	chr2:63207600-63235200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:63207800-63234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:63207800-63246000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:63207800-63258000	Weak transcription	Placenta	Placenta
28	chr2:63208200-63242600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:63208800-63228400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:63209200-63225000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:63209400-63260000	Weak transcription	Aorta	Aorta
32	chr2:63209600-63239800	Weak transcription	Psoas Muscle	Psoas
33	chr2:63210000-63234200	Weak transcription	Fetal Thymus	thymus
34	chr2:63210000-63235400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:63210200-63232200	Weak transcription	Brain Germinal Matrix	brain
36	chr2:63210400-63225800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:63213200-63229000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:63214400-63225200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:63216400-63231400	Weak transcription	Fetal Brain Male	brain
40	chr2:63216600-63229200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:63218600-63227400	Strong transcription	HSMM	muscle
42	chr2:63219000-63225200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:63219200-63245600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:63219200-63269800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:63219400-63261600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:63220000-63225600	Strong transcription	NHDF-Ad	bronchial
47	chr2:63220000-63227400	Weak transcription	Brain Anterior Caudate	brain
48	chr2:63220200-63250600	Weak transcription	Small Intestine	intestine
49	chr2:63220400-63224600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:63220600-63224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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