Variant report

Variant	rs547848136
Chromosome Location	chr2:30633493-30633494
allele	C/G
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:

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

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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:77 , 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	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
4	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
5	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:30628200-30636000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:30628600-30634800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:30629400-30634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:30629400-30635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:30629600-30638000	Enhancers	Fetal Lung	lung
14	chr2:30629800-30634000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:30629800-30634200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:30629800-30638800	Enhancers	NHDF-Ad	bronchial
17	chr2:30630200-30633800	Enhancers	Ovary	ovary
18	chr2:30630200-30635200	Enhancers	Fetal Thymus	thymus
19	chr2:30630200-30638000	Enhancers	NHLF	lung
20	chr2:30630400-30633600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:30630400-30633800	Enhancers	Osteobl	bone
22	chr2:30630400-30634000	Enhancers	NH-A	brain
23	chr2:30630400-30634200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:30630400-30634200	Enhancers	Thymus	Thymus
25	chr2:30630400-30634200	Enhancers	HUVEC	blood vessel
26	chr2:30630600-30635000	Enhancers	Primary T cells from cord blood	blood
27	chr2:30630800-30634000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:30631000-30633600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:30631200-30634000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:30631400-30635600	Weak transcription	Fetal Intestine Large	intestine
32	chr2:30631600-30636200	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:30631600-30636400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:30631600-30637000	Enhancers	Colon Smooth Muscle	Colon
35	chr2:30631600-30639800	Weak transcription	Small Intestine	intestine
36	chr2:30631800-30634400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:30631800-30635400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:30632000-30633600	Weak transcription	Fetal Kidney	kidney
39	chr2:30632000-30635400	Weak transcription	Adipose Nuclei	Adipose
40	chr2:30632200-30633600	Weak transcription	Right Atrium	heart
41	chr2:30632200-30634000	Enhancers	Dnd41	blood
42	chr2:30632200-30635000	Weak transcription	Psoas Muscle	Psoas
43	chr2:30632200-30636400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:30632200-30636600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:30632200-30644600	Weak transcription	Esophagus	oesophagus
46	chr2:30632400-30633800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:30632400-30634000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:30632400-30634800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:30632400-30634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:30632600-30633600	Weak transcription	Fetal Muscle Leg	muscle

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