Variant report

Variant	rs535051827
Chromosome Location	chr2:190309416-190309417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190307972..190310457-chr2:190436965..190439682,2	K562	blood:
2	chr2:190308951..190311414-chr2:190525622..190528539,2	MCF-7	breast:
3	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:
4	chr2:190307453..190310457-chr2:190438182..190441040,3	K562	blood:

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3430138	chr2:190309373-190309618	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190309600	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr2:190306800-190309800	Enhancers	Small Intestine	intestine
3	chr2:190306800-190323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:190306800-190323800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
6	chr2:190307000-190309600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:190307000-190309800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:190307000-190317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:190307000-190334200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:190307200-190309600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr2:190307200-190309800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:190307200-190312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:190307200-190313200	Weak transcription	Fetal Kidney	kidney
14	chr2:190307200-190313400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:190307400-190309600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:190307400-190309600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:190307400-190309600	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:190307400-190311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:190307400-190312200	Weak transcription	Placenta	Placenta
20	chr2:190307400-190312400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:190307400-190312800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:190307400-190312800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:190307400-190313000	Weak transcription	HSMMtube	muscle
24	chr2:190307600-190309600	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:190307600-190309800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:190307600-190310000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:190307600-190311000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:190307600-190311400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:190307600-190312200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:190307600-190312200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:190307600-190312600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:190307600-190312600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:190307600-190312800	Weak transcription	Brain Anterior Caudate	brain
34	chr2:190307600-190313000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:190307600-190313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:190307600-190314200	Weak transcription	Brain Germinal Matrix	brain
37	chr2:190307600-190314800	Weak transcription	Left Ventricle	heart
38	chr2:190307600-190314800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:190307600-190315000	Weak transcription	Gastric	stomach
40	chr2:190307600-190316200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:190307600-190316200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:190307600-190316400	Weak transcription	Colonic Mucosa	Colon
43	chr2:190307600-190317000	Weak transcription	Fetal Stomach	stomach
44	chr2:190307600-190317200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:190307600-190317400	Weak transcription	Lung	lung
46	chr2:190307600-190322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:190307600-190323400	Weak transcription	Ovary	ovary
48	chr2:190307600-190330000	Weak transcription	Fetal Heart	heart
49	chr2:190307600-190334200	Weak transcription	Pancreas	Pancrea
50	chr2:190307600-190338200	Weak transcription	Spleen	Spleen

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