Variant report

Variant	rs7587935
Chromosome Location	chr2:20408844-20408845
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	chr2:20398170..20400428-chr2:20406801..20409659,2	K562	blood:
2	chr2:20367456..20369768-chr2:20407919..20409910,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs73225798	1.00[AMR][1000 genomes]
rs73227783	1.00[AMR][1000 genomes]
rs73229414	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20389200-20413600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
3	chr2:20398000-20412200	Weak transcription	NH-A	brain
4	chr2:20401600-20411800	Weak transcription	Spleen	Spleen
5	chr2:20403200-20412600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:20403400-20412000	Genic enhancers	HMEC	breast
7	chr2:20403400-20412400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:20403800-20411800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:20403800-20412400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:20404000-20413600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:20404000-20414000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:20404000-20422400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:20404600-20409200	Genic enhancers	Fetal Intestine Small	intestine
14	chr2:20404600-20420800	Enhancers	Stomach Mucosa	stomach
15	chr2:20404800-20411200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:20405000-20410800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:20405000-20411800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:20405000-20415000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:20405200-20409000	Enhancers	Fetal Lung	lung
20	chr2:20405200-20413000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:20405200-20413800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:20405200-20414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:20405200-20414600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:20405400-20409000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:20405400-20409200	Enhancers	Fetal Intestine Large	intestine
26	chr2:20405400-20410600	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:20405400-20410800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:20405400-20410800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:20405600-20411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:20405800-20411800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:20405800-20416200	Enhancers	Gastric	stomach
32	chr2:20406200-20409000	Enhancers	Pancreas	Pancrea
33	chr2:20406200-20410400	Genic enhancers	NHEK	skin
34	chr2:20406200-20412800	Enhancers	GM12878-XiMat	blood
35	chr2:20406800-20409400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:20406800-20409400	Genic enhancers	Fetal Stomach	stomach
37	chr2:20407000-20409400	Enhancers	Small Intestine	intestine
38	chr2:20407000-20409600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:20407000-20412000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:20407200-20410000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:20407200-20412200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:20407200-20413000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:20407400-20409200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:20407600-20409400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:20407800-20409400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:20407800-20409400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:20407800-20414800	Enhancers	Colonic Mucosa	Colon
48	chr2:20408000-20409000	Enhancers	Fetal Thymus	thymus
49	chr2:20408000-20409200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:20408000-20412400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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