Variant report

Variant	rs55982993
Chromosome Location	chr2:85906365-85906366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85906071..85907432-chr2:85933759..85935058,9	MCF-7	breast:
2	chr2:85904933..85907760-chr2:85933076..85936019,2	MCF-7	breast:
3	chr2:85905984..85906919-chr2:85955820..85956730,3	MCF-7	breast:
4	chr2:85895587..85899828-chr2:85904456..85908043,4	K562	blood:
5	chr2:85900096..85901739-chr2:85904881..85906884,2	K562	blood:
6	chr2:85905086..85906749-chr2:85913552..85916158,2	K562	blood:
7	chr2:85906061..85906876-chr2:85945247..85945851,2	MCF-7	breast:
8	chr2:85905086..85909626-chr2:85912458..85918293,6	K562	blood:
9	chr2:85901871..85904801-chr2:85904981..85906586,2	MCF-7	breast:
10	chr2:85906030..85906925-chr2:86041040..86041639,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168878	Chromatin interaction
ENSG00000203363	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59153844	0.95[AFR][1000 genomes]
rs59875598	0.90[AFR][1000 genomes]
rs59944166	0.90[AFR][1000 genomes]
rs6547630	0.95[AFR][1000 genomes]
rs6733404	0.90[AFR][1000 genomes]
rs6740143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925004	0.90[AFR][1000 genomes]
rs72925006	0.86[AFR][1000 genomes]
rs72925023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563758	0.91[AFR][1000 genomes]
rs7598517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874465	chr2:85898898-85939207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv2812	chr2:85899944-85929267	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85901800-85908800	Weak transcription	HSMMtube	muscle
2	chr2:85903400-85909800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:85905000-85906800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:85905200-85906800	Enhancers	K562	blood
5	chr2:85905400-85906800	Enhancers	Fetal Lung	lung
6	chr2:85905400-85906800	Enhancers	HUVEC	blood vessel
7	chr2:85905400-85906800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:85905600-85906400	Enhancers	Left Ventricle	heart
9	chr2:85905600-85906600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:85905600-85906800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:85905600-85906800	Enhancers	Primary B cells from cord blood	blood
12	chr2:85905600-85906800	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:85905600-85906800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:85905600-85906800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:85905600-85906800	Enhancers	Fetal Thymus	thymus
16	chr2:85905600-85906800	Enhancers	Pancreas	Pancrea
17	chr2:85905600-85907000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr2:85905600-85907000	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:85905600-85907000	Enhancers	Adipose Nuclei	Adipose
20	chr2:85905600-85908400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:85905600-85908600	Enhancers	Brain Hippocampus Middle	brain
22	chr2:85905600-85909200	Enhancers	Lung	lung
23	chr2:85905600-85909800	Enhancers	Psoas Muscle	Psoas
24	chr2:85905800-85906400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:85905800-85906400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:85905800-85906400	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:85905800-85906400	Enhancers	Fetal Brain Male	brain
28	chr2:85905800-85906400	Enhancers	A549	lung
29	chr2:85905800-85906600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr2:85905800-85906600	Enhancers	Stomach Mucosa	stomach
31	chr2:85905800-85906600	Enhancers	Spleen	Spleen
32	chr2:85905800-85906800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:85905800-85906800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:85905800-85906800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:85905800-85906800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:85905800-85906800	Enhancers	Fetal Heart	heart
37	chr2:85905800-85906800	Enhancers	Ovary	ovary
38	chr2:85905800-85909600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:85906000-85906400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:85906000-85906400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:85906000-85906400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:85906000-85906400	Enhancers	Fetal Intestine Large	intestine
43	chr2:85906000-85906400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:85906000-85906400	Enhancers	Right Ventricle	heart
45	chr2:85906000-85906400	Enhancers	NHDF-Ad	bronchial
46	chr2:85906000-85906400	Enhancers	NHLF	lung
47	chr2:85906000-85906600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:85906000-85906600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr2:85906000-85906600	Enhancers	Colon Smooth Muscle	Colon
50	chr2:85906000-85906600	Enhancers	Fetal Brain Female	brain

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