Variant report

Variant	rs2249646
Chromosome Location	chr2:128283652-128283653
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128268468..128273715-chr2:128281746..128285691,7	MCF-7	breast:
2	chr2:128282521..128284586-chr2:128401987..128404000,3	MCF-7	breast:
3	chr2:128281499..128284149-chr2:128402816..128405194,3	K562	blood:
4	chr2:128282210..128283932-chr2:128379234..128381110,2	MCF-7	breast:
5	chr2:128281529..128285562-chr2:128456798..128461981,8	MCF-7	breast:
6	chr2:128281830..128287084-chr2:128456997..128460931,12	MCF-7	breast:
7	chr2:128271646..128276478-chr2:128281725..128284912,6	MCF-7	breast:
8	chr2:128272088..128276196-chr2:128278536..128286742,8	K562	blood:
9	chr2:128281740..128285599-chr2:128456961..128460579,6	K562	blood:
10	chr2:128280589..128286553-chr2:128394118..128400117,7	K562	blood:
11	chr2:128145128..128146772-chr2:128281228..128284838,3	MCF-7	breast:
12	chr2:128271568..128276709-chr2:128278536..128286742,13	K562	blood:
13	chr2:128282942..128286699-chr2:128456814..128459461,6	K562	blood:
14	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
15	chr1:149857973..149858894-chr2:128283439..128284427,3	Hela-S3	cervix:
16	chr2:128283338..128286732-chr2:128405209..128408607,3	MCF-7	breast:
17	chr2:128282097..128285637-chr2:128404430..128407235,3	MCF-7	breast:
18	chr17:57923753..57926403-chr2:128283253..128285757,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction
ENSG00000144230	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000169967	Chromatin interaction
ENSG00000236682	Chromatin interaction
ENSG00000072163	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10190872	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10206221	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475217	0.81[ASN][1000 genomes]
rs12621149	0.87[ASN][1000 genomes]
rs13397441	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13399231	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13415053	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549767	0.87[ASN][1000 genomes]
rs17015347	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17015399	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173013	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17522960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078028	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679402	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679407	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334139	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334140	0.83[AMR][1000 genomes]
rs334147	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334148	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334149	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334150	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334153	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334155	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334162	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4423553	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58462277	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59934067	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6707186	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707425	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6722447	0.85[ASN][1000 genomes]
rs6731270	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6733422	0.84[AMR][1000 genomes]
rs6734816	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958594	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72958600	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7569931	0.84[EUR][1000 genomes]
rs7570609	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572181	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7576217	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7598346	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7603777	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777547	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777549	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777550	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777551	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777561	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs777562	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs777563	0.86[EUR][1000 genomes];0.81[ASN][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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv2912	chr2:128281152-128307830	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128281200-128283800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:128281800-128284800	Active TSS	A549	lung
3	chr2:128282000-128286400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:128282400-128284600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:128282400-128284600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:128282400-128284800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:128282400-128285000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:128282600-128284600	Active TSS	HSMM	muscle
9	chr2:128282600-128284800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr2:128282600-128284800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:128282600-128284800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:128282600-128285000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:128282600-128285000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:128282600-128285000	Active TSS	Psoas Muscle	Psoas
15	chr2:128282800-128283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:128282800-128284600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:128282800-128284600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:128282800-128284600	Active TSS	Fetal Lung	lung
19	chr2:128282800-128284600	Active TSS	HMEC	breast
20	chr2:128282800-128284600	Active TSS	HSMMtube	muscle
21	chr2:128282800-128284600	Active TSS	NHLF	lung
22	chr2:128282800-128284800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:128282800-128284800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:128282800-128284800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:128282800-128284800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr2:128282800-128284800	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr2:128282800-128284800	Active TSS	Fetal Intestine Large	intestine
28	chr2:128282800-128284800	Active TSS	Fetal Intestine Small	intestine
29	chr2:128282800-128284800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:128282800-128284800	Active TSS	Ovary	ovary
31	chr2:128282800-128284800	Active TSS	GM12878-XiMat	blood
32	chr2:128282800-128285000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:128282800-128285000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:128282800-128285000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:128282800-128285000	Active TSS	Esophagus	oesophagus
36	chr2:128282800-128285000	Active TSS	Right Atrium	heart
37	chr2:128282800-128285200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:128282800-128285400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:128283000-128284000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:128283000-128284600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:128283000-128284600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:128283000-128284600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:128283000-128284600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:128283000-128284600	Active TSS	Fetal Heart	heart
45	chr2:128283000-128284600	Active TSS	NH-A	brain
46	chr2:128283000-128284600	Active TSS	NHEK	skin
47	chr2:128283000-128284800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:128283000-128284800	Active TSS	Aorta	Aorta
49	chr2:128283000-128284800	Active TSS	Gastric	stomach
50	chr2:128283000-128284800	Active TSS	Lung	lung

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