Variant report

Variant	rs13410523
Chromosome Location	chr2:20398159-20398160
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	chr2:20386779..20388419-chr2:20396505..20399167,2	K562	blood:

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]
rs28609977	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20384600-20400000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:20386200-20401400	Weak transcription	Spleen	Spleen
3	chr2:20386600-20401400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:20388600-20400400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:20389200-20413600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:20389400-20398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:20389800-20400400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:20390600-20400200	Weak transcription	HMEC	breast
9	chr2:20391000-20403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:20391600-20400400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:20391600-20400600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:20391600-20400600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:20391600-20400800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:20391600-20402400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:20391600-20404800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:20391800-20398600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:20391800-20400600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:20391800-20402200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
20	chr2:20392000-20399800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:20392000-20400600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:20392800-20401600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:20394400-20400200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:20394600-20398600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20395400-20399800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:20395600-20400400	Enhancers	Liver	Liver
27	chr2:20395600-20403000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:20395800-20399600	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:20395800-20400800	Enhancers	Stomach Mucosa	stomach
30	chr2:20396000-20399400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:20396000-20400400	Enhancers	NHEK	skin
32	chr2:20396400-20399400	Enhancers	HepG2	liver
33	chr2:20396400-20400200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:20396400-20400600	Weak transcription	Fetal Brain Female	brain
35	chr2:20396400-20407000	Weak transcription	Small Intestine	intestine
36	chr2:20396600-20400400	Weak transcription	A549	lung
37	chr2:20397000-20400400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:20397200-20400600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:20397400-20398200	Enhancers	Placenta	Placenta
40	chr2:20397400-20399200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:20397400-20399600	Enhancers	Colonic Mucosa	Colon
42	chr2:20397600-20399000	Enhancers	Fetal Intestine Small	intestine
43	chr2:20397600-20399000	Enhancers	Lung	lung
44	chr2:20397600-20399000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:20397600-20399200	Weak transcription	Fetal Kidney	kidney
46	chr2:20397600-20399400	Enhancers	Gastric	stomach
47	chr2:20397800-20398200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:20397800-20398400	Enhancers	Pancreas	Pancrea
49	chr2:20397800-20399000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:20397800-20399000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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