Variant report

Variant	rs6717336
Chromosome Location	chr2:30646700-30646701
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	chr2:30644068..30646779-chr2:30882858..30884362,2	K562	blood:
2	chr2:30453855..30456299-chr2:30645533..30648817,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6736148	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1799950	chr2:30632520-30654319	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:30643600-30648200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:30644000-30648600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:30644400-30650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:30645000-30647600	Enhancers	Fetal Thymus	thymus
6	chr2:30645000-30652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:30645200-30646800	Enhancers	Primary B cells from cord blood	blood
8	chr2:30645200-30647600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:30645200-30648000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:30645600-30647200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:30645600-30647200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:30645600-30647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:30645600-30647400	Weak transcription	Esophagus	oesophagus
14	chr2:30645600-30647800	Weak transcription	Right Ventricle	heart
15	chr2:30645600-30648000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:30645600-30648600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:30645600-30650800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:30645600-30650800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:30645600-30651000	Weak transcription	Gastric	stomach
20	chr2:30645600-30656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:30645800-30647400	Weak transcription	NHEK	skin
22	chr2:30645800-30647600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:30645800-30647800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:30645800-30647800	Weak transcription	NH-A	brain
25	chr2:30645800-30648000	Enhancers	Fetal Heart	heart
26	chr2:30645800-30648000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:30645800-30648000	Weak transcription	HSMM	muscle
28	chr2:30645800-30648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:30645800-30648600	Enhancers	NHDF-Ad	bronchial
30	chr2:30645800-30650800	Weak transcription	Stomach Mucosa	stomach
31	chr2:30645800-30651000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:30645800-30651000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:30645800-30656600	Weak transcription	Fetal Lung	lung
34	chr2:30646000-30647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:30646000-30647200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:30646000-30647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:30646000-30647400	Weak transcription	Left Ventricle	heart
38	chr2:30646000-30647800	Enhancers	Primary T cells from cord blood	blood
39	chr2:30646000-30653400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:30646400-30646800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:30646400-30647200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:30646400-30647600	Enhancers	Dnd41	blood
43	chr2:30646400-30647600	Weak transcription	NHLF	lung
44	chr2:30646400-30648000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:30646400-30648000	Weak transcription	HMEC	breast
46	chr2:30646400-30648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:30646400-30649000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:30646400-30649200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:30646400-30651000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:30646400-30651200	Weak transcription	K562	blood

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