Variant report

Variant	rs28609977
Chromosome Location	chr2:20404286-20404287
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	chr2:20395654..20398324-chr2:20403318..20405686,2	K562	blood:
2	chr2:20402437..20404909-chr2:20459610..20461542,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13392821	1.00[AMR][1000 genomes]
rs13394115	1.00[AMR][1000 genomes]
rs13410523	1.00[AMR][1000 genomes]
rs57241527	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:67 , 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	chr2:20391600-20404800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
4	chr2:20396400-20407000	Weak transcription	Small Intestine	intestine
5	chr2:20398000-20412200	Weak transcription	NH-A	brain
6	chr2:20398600-20406200	Weak transcription	GM12878-XiMat	blood
7	chr2:20399400-20408400	Weak transcription	NHDF-Ad	bronchial
8	chr2:20399800-20404600	Strong transcription	Fetal Intestine Small	intestine
9	chr2:20399800-20405600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:20400000-20404600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:20400000-20405000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr2:20400000-20408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20400200-20405400	Strong transcription	Fetal Stomach	stomach
14	chr2:20400400-20404600	Strong transcription	Gastric	stomach
15	chr2:20400400-20405000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:20400400-20405200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr2:20400400-20405200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:20400400-20405200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:20400400-20405200	Strong transcription	A549	lung
20	chr2:20400600-20404600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:20400600-20405200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:20400600-20405400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr2:20400600-20405400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:20400600-20406800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:20400800-20405400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:20401000-20404600	Strong transcription	HepG2	liver
27	chr2:20401200-20404400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:20401200-20404800	Strong transcription	Colonic Mucosa	Colon
29	chr2:20401200-20405200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:20401600-20405000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:20401600-20411800	Weak transcription	Spleen	Spleen
32	chr2:20402000-20406800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:20402400-20404400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:20402400-20408400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:20402600-20404600	Strong transcription	Fetal Intestine Large	intestine
36	chr2:20402600-20405200	Weak transcription	Fetal Lung	lung
37	chr2:20402600-20405800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:20402600-20406600	Weak transcription	Lung	lung
39	chr2:20403000-20404600	Strong transcription	Placenta	Placenta
40	chr2:20403200-20405000	Genic enhancers	Liver	Liver
41	chr2:20403200-20406200	Strong transcription	NHEK	skin
42	chr2:20403200-20412600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:20403400-20412000	Genic enhancers	HMEC	breast
44	chr2:20403400-20412400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:20403600-20404600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:20403600-20404800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:20403600-20405000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:20403600-20406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:20403800-20404600	Weak transcription	Stomach Mucosa	stomach
50	chr2:20403800-20405600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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