Variant report

Variant	rs10206221
Chromosome Location	chr2:128282768-128282769
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 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	chr2:128281712..128283571-chr2:128434827..128436741,2	K562	blood:
10	chr2:128281740..128285599-chr2:128456961..128460579,6	K562	blood:
11	chr2:128280589..128286553-chr2:128394118..128400117,7	K562	blood:
12	chr2:128145128..128146772-chr2:128281228..128284838,3	MCF-7	breast:
13	chr2:128271568..128276709-chr2:128278536..128286742,13	K562	blood:
14	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
15	chr2:128282097..128285637-chr2:128404430..128407235,3	MCF-7	breast:

No data

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

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10190872	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12475217	0.81[ASN][1000 genomes]
rs12621149	0.87[ASN][1000 genomes]
rs13397441	0.98[ASN][1000 genomes]
rs13399231	0.97[ASN][1000 genomes]
rs13415053	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1549767	0.87[ASN][1000 genomes]
rs17015347	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17015399	0.97[ASN][1000 genomes]
rs173013	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17522960	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078028	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2249646	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2566564	0.94[AMR][1000 genomes]
rs2679402	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2679407	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334139	0.90[ASN][1000 genomes]
rs334140	0.80[AMR][1000 genomes]
rs334142	0.94[AMR][1000 genomes]
rs334147	0.86[ASN][1000 genomes]
rs334148	0.86[ASN][1000 genomes]
rs334149	0.86[ASN][1000 genomes]
rs334150	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs334153	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs334155	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs334162	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3732208	0.87[AMR][1000 genomes]
rs4423553	0.98[ASN][1000 genomes]
rs55981410	0.81[AMR][1000 genomes]
rs56217122	0.87[AMR][1000 genomes]
rs56234754	0.87[AMR][1000 genomes]
rs58462277	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59934067	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61342606	0.87[AMR][1000 genomes]
rs6707186	0.90[ASN][1000 genomes]
rs6707425	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6722447	0.85[ASN][1000 genomes]
rs6731270	0.88[ASN][1000 genomes]
rs6734816	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748790	0.87[AMR][1000 genomes]
rs6757654	0.84[AMR][1000 genomes]
rs72958594	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72958600	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7570609	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7572181	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7574209	0.87[AMR][1000 genomes]
rs7574215	0.84[AMR][1000 genomes]
rs7576217	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7598346	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7603777	0.90[ASN][1000 genomes]
rs777547	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs777549	0.90[ASN][1000 genomes]
rs777550	0.90[ASN][1000 genomes]
rs777551	0.90[ASN][1000 genomes]
rs777557	0.94[AMR][1000 genomes]
rs777558	0.94[AMR][1000 genomes]
rs777561	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs777562	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs777563	0.94[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128262600-128283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:128263200-128282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:128266000-128282800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:128272400-128282800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:128272400-128282800	Weak transcription	Colonic Mucosa	Colon
6	chr2:128272800-128282800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:128273600-128282800	Weak transcription	Gastric	stomach
8	chr2:128274200-128282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:128274200-128283000	Weak transcription	Aorta	Aorta
10	chr2:128274400-128282800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:128274400-128282800	Weak transcription	Ovary	ovary
12	chr2:128274400-128282800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:128274400-128282800	Weak transcription	Right Atrium	heart
14	chr2:128274400-128282800	Weak transcription	Right Ventricle	heart
15	chr2:128274600-128282800	Weak transcription	NHLF	lung
16	chr2:128275800-128282800	Weak transcription	Fetal Brain Female	brain
17	chr2:128275800-128282800	Weak transcription	HSMMtube	muscle
18	chr2:128280000-128282800	Weak transcription	Esophagus	oesophagus
19	chr2:128280200-128282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:128280400-128282800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:128280600-128282800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:128281000-128282800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:128281200-128282800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:128281200-128282800	Enhancers	Brain Hippocampus Middle	brain
25	chr2:128281200-128283800	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr2:128281400-128282800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:128281400-128282800	Enhancers	Primary T cells from cord blood	blood
28	chr2:128281400-128282800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:128281400-128282800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:128281400-128282800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:128281400-128282800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:128281400-128282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:128281400-128282800	Weak transcription	Fetal Intestine Large	intestine
34	chr2:128281400-128282800	Weak transcription	Fetal Lung	lung
35	chr2:128281400-128282800	Weak transcription	NH-A	brain
36	chr2:128281600-128282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:128281600-128282800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:128281600-128282800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:128281600-128282800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:128281600-128282800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:128281600-128282800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:128281600-128282800	Enhancers	Brain Substantia Nigra	brain
43	chr2:128281600-128282800	Weak transcription	HMEC	breast
44	chr2:128281800-128282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:128281800-128282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:128281800-128282800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:128281800-128282800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:128281800-128282800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:128281800-128282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:128281800-128282800	Enhancers	Liver	Liver

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