Variant report

Variant	rs530439605
Chromosome Location	chr2:30633801-30633802
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30632868..30636418-chr2:30882716..30885684,3	K562	blood:
2	chr2:30622154..30624895-chr2:30633768..30635407,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
4	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:30628200-30636000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:30628600-30634800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:30629400-30634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:30629400-30635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:30629600-30638000	Enhancers	Fetal Lung	lung
13	chr2:30629800-30634000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:30629800-30634200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:30629800-30638800	Enhancers	NHDF-Ad	bronchial
16	chr2:30630200-30635200	Enhancers	Fetal Thymus	thymus
17	chr2:30630200-30638000	Enhancers	NHLF	lung
18	chr2:30630400-30634000	Enhancers	NH-A	brain
19	chr2:30630400-30634200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:30630400-30634200	Enhancers	Thymus	Thymus
21	chr2:30630400-30634200	Enhancers	HUVEC	blood vessel
22	chr2:30630600-30635000	Enhancers	Primary T cells from cord blood	blood
23	chr2:30630800-30634000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:30631200-30634000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:30631400-30635600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:30631600-30636200	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:30631600-30636400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:30631600-30637000	Enhancers	Colon Smooth Muscle	Colon
30	chr2:30631600-30639800	Weak transcription	Small Intestine	intestine
31	chr2:30631800-30634400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:30631800-30635400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:30632000-30635400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:30632200-30634000	Enhancers	Dnd41	blood
35	chr2:30632200-30635000	Weak transcription	Psoas Muscle	Psoas
36	chr2:30632200-30636400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:30632200-30636600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
39	chr2:30632400-30634000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:30632400-30634800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:30632400-30634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:30632600-30634000	Enhancers	Aorta	Aorta
43	chr2:30632600-30636000	Weak transcription	Placenta	Placenta
44	chr2:30632800-30634000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:30632800-30634000	Enhancers	HMEC	breast
46	chr2:30632800-30634000	Enhancers	NHEK	skin
47	chr2:30632800-30636400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:30633000-30634000	Enhancers	HSMM	muscle
49	chr2:30633000-30634200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:30633200-30634000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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