Variant report

Variant	rs34595677
Chromosome Location	chr2:20124178-20124179
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	chr2:20123825..20126159-chr2:20127978..20130172,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11680554	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11681705	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11683973	0.81[AMR][1000 genomes]
rs11688098	0.81[AMR][1000 genomes]
rs12986437	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12988913	0.81[AMR][1000 genomes]
rs12995324	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005512	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13011870	0.82[AMR][1000 genomes]
rs16987257	0.81[AMR][1000 genomes]
rs17695872	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2028208	0.81[AMR][1000 genomes]
rs28452699	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34400777	0.84[AMR][1000 genomes]
rs34741640	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35307726	0.84[AMR][1000 genomes]
rs66496755	0.81[AMR][1000 genomes]
rs6706311	0.84[AMR][1000 genomes]
rs67724270	0.84[AMR][1000 genomes]
rs67915887	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs721932	0.81[AMR][1000 genomes]
rs721933	0.81[AMR][1000 genomes]

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	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv521619	chr2:20098208-20150817	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv527453	chr2:20109061-20160209	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102400-20126600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20102600-20127600	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:20102600-20127800	Weak transcription	Aorta	Aorta
4	chr2:20102600-20128000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:20102800-20126600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:20102800-20126600	Weak transcription	Fetal Lung	lung
7	chr2:20102800-20126800	Weak transcription	Fetal Kidney	kidney
8	chr2:20102800-20127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:20102800-20127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:20102800-20127600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:20102800-20128800	Weak transcription	Liver	Liver
12	chr2:20102800-20128800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:20102800-20129000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
15	chr2:20103000-20126800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:20103000-20127400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:20105000-20127400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:20105400-20129000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:20105400-20130200	Weak transcription	Lung	lung
20	chr2:20108600-20127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:20108800-20137400	Weak transcription	Right Ventricle	heart
22	chr2:20109200-20126600	Weak transcription	Primary B cells from cord blood	blood
23	chr2:20111000-20126600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:20111800-20127800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:20112200-20128400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:20112200-20130000	Weak transcription	HSMMtube	muscle
27	chr2:20112400-20126600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:20112400-20126800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:20112400-20128000	Weak transcription	Osteobl	bone
30	chr2:20112400-20128400	Weak transcription	NHDF-Ad	bronchial
31	chr2:20112600-20126800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:20112600-20126800	Weak transcription	HMEC	breast
33	chr2:20112600-20128800	Weak transcription	Hela-S3	cervix
34	chr2:20114000-20126200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:20114000-20126200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:20114000-20129000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:20114200-20124200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:20114200-20128200	Weak transcription	HepG2	liver
39	chr2:20114400-20124400	Weak transcription	HUVEC	blood vessel
40	chr2:20114400-20126800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:20114400-20127400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:20114400-20143800	Weak transcription	Brain Substantia Nigra	brain
43	chr2:20114600-20127000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:20114600-20127200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:20116400-20126600	Weak transcription	Fetal Intestine Small	intestine
46	chr2:20116400-20127400	Weak transcription	Ovary	ovary
47	chr2:20116400-20128800	Weak transcription	A549	lung
48	chr2:20116600-20127400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:20116800-20124200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:20116800-20126600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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