Variant report

Variant	rs2001594
Chromosome Location	chr2:86009975-86009976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85988970..85991033-chr2:86009330..86011964,2	K562	blood:
2	chr2:85998588..86002655-chr2:86008368..86012059,3	MCF-7	breast:
3	chr2:86005755..86007502-chr2:86009550..86012343,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10205074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13385658	1.00[AMR][1000 genomes]
rs13429794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs3046647	1.00[AMR][1000 genomes]
rs56790095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59512984	1.00[EUR][1000 genomes]
rs60869707	1.00[EUR][1000 genomes]
rs60990198	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs72928918	1.00[EUR][1000 genomes]
rs72928927	1.00[EUR][1000 genomes]
rs72928930	1.00[EUR][1000 genomes]
rs72928931	1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes]
rs72928941	1.00[EUR][1000 genomes]
rs72928947	1.00[EUR][1000 genomes]
rs72928948	1.00[EUR][1000 genomes]
rs72928951	1.00[EUR][1000 genomes]
rs72928954	1.00[EUR][1000 genomes]
rs72930750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs7608987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3428642	chr2:86009549-86010004	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86000200-86010400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86001200-86012800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:86001600-86011800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
6	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:86001800-86014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:86002200-86012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:86002200-86015800	Weak transcription	A549	lung
10	chr2:86002400-86011200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:86002800-86011800	Weak transcription	HSMMtube	muscle
12	chr2:86004000-86014000	Weak transcription	Gastric	stomach
13	chr2:86004800-86011000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:86005400-86014400	Weak transcription	Fetal Intestine Large	intestine
16	chr2:86005400-86019200	Weak transcription	HUVEC	blood vessel
17	chr2:86005800-86011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:86005800-86011800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:86006000-86011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:86006000-86012000	Weak transcription	Fetal Heart	heart
21	chr2:86006600-86019000	Weak transcription	Esophagus	oesophagus
22	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:86007000-86012000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:86007000-86012200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:86007000-86015400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:86007000-86019200	Weak transcription	Hela-S3	cervix
27	chr2:86007200-86011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:86007200-86011800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:86007400-86011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:86007400-86012600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:86007600-86010000	Weak transcription	Aorta	Aorta
32	chr2:86007600-86010800	Weak transcription	Ovary	ovary
33	chr2:86007600-86011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:86007600-86011800	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:86007600-86012600	Weak transcription	Liver	Liver
36	chr2:86007600-86012800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:86007800-86011600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:86008000-86011600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:86008000-86012800	Weak transcription	HepG2	liver
40	chr2:86008200-86010000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:86008200-86011000	Weak transcription	Spleen	Spleen
42	chr2:86008200-86011200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:86008200-86011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:86008200-86011800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:86008200-86011800	Weak transcription	Psoas Muscle	Psoas
46	chr2:86008200-86012000	Weak transcription	Left Ventricle	heart
47	chr2:86008200-86012200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:86008200-86012400	Weak transcription	Colonic Mucosa	Colon
49	chr2:86008200-86016000	Weak transcription	Pancreas	Pancrea
50	chr2:86008400-86010200	Enhancers	Skeletal Muscle Male	skeletal muscle

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