Variant report

Variant	rs2982594
Chromosome Location	chr11:34224112-34224113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34194574..34196740-chr11:34221651..34224384,2	K562	blood:
2	chr11:34224045..34226285-chr11:34321256..34323357,2	MCF-7	breast:
3	chr11:34218731..34220408-chr11:34222134..34224402,2	K562	blood:
4	chr11:34213006..34215990-chr11:34223234..34225246,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2467372	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2957502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121781	0.96[ASN][1000 genomes]
rs734263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849370	chr11:34218849-34225647	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1848893	chr11:34220507-34225647	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1844284	chr11:34220507-34225950	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv8806	chr11:34220554-34226369	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459308	chr11:34220590-34226157	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3459319	chr11:34220622-34226150	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv825834	chr11:34220632-34225798	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1845247	chr11:34220654-34225798	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1846069	chr11:34220654-34225798	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3459341	chr11:34220654-34226061	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3459330	chr11:34220660-34226094	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3459352	chr11:34220660-34226094	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34203000-34224800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:34203400-34228200	Weak transcription	Psoas Muscle	Psoas
3	chr11:34207200-34226000	Weak transcription	Gastric	stomach
4	chr11:34208200-34235200	Weak transcription	Adipose Nuclei	Adipose
5	chr11:34210600-34224800	Weak transcription	Primary T cells from cord blood	blood
6	chr11:34210600-34226600	Weak transcription	Pancreas	Pancrea
7	chr11:34214000-34224400	Weak transcription	GM12878-XiMat	blood
8	chr11:34214600-34228000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:34214800-34225200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:34215000-34228200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:34215000-34228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:34215000-34235800	Weak transcription	Brain Anterior Caudate	brain
13	chr11:34215200-34226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:34215200-34226400	Weak transcription	Osteobl	bone
15	chr11:34215200-34227400	Weak transcription	Brain Substantia Nigra	brain
16	chr11:34215200-34228200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:34215600-34224400	Weak transcription	NHEK	skin
18	chr11:34215600-34225400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:34215600-34228200	Weak transcription	Right Atrium	heart
20	chr11:34215600-34232600	Weak transcription	Fetal Brain Female	brain
21	chr11:34215800-34224800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:34215800-34225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:34216000-34224600	Weak transcription	Hela-S3	cervix
24	chr11:34216000-34225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:34216000-34228200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:34216200-34225400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:34216200-34226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:34216600-34228400	Weak transcription	Lung	lung
29	chr11:34217000-34225000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:34217000-34225200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:34217200-34224600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:34217200-34224800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:34217200-34224800	Weak transcription	NH-A	brain
34	chr11:34217200-34225000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:34217400-34224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:34217600-34225000	Weak transcription	Aorta	Aorta
37	chr11:34218800-34226600	Weak transcription	HSMM	muscle
38	chr11:34218800-34228200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:34218800-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:34219000-34224600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:34219000-34224600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:34219000-34225000	Weak transcription	A549	lung
43	chr11:34219000-34226200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:34219000-34228000	Weak transcription	Fetal Intestine Small	intestine
45	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
46	chr11:34219200-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:34219400-34224400	Weak transcription	Placenta	Placenta
48	chr11:34219600-34226000	Weak transcription	Esophagus	oesophagus
49	chr11:34220400-34224800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:34220600-34224600	Weak transcription	Primary T cells fromperipheralblood	blood

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