Variant report

Variant	rs711242
Chromosome Location	chr2:30735152-30735153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
2	chr2:30453272..30455025-chr2:30735070..30737153,2	K562	blood:
3	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
4	chr2:30733241..30735304-chr2:30736147..30738560,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10197664	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10205934	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10495776	0.83[EUR][1000 genomes]
rs1096110	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1113661	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11676852	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11678346	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1252644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12612080	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12616814	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12621663	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12714308	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1464817	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2363073	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2609927	0.82[EUR][1000 genomes]
rs6712951	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71412838	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736256	0.83[AFR][1000 genomes]
rs7602714	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829626	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829628	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs829668	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9789517	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
5	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
6	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
8	chr2:30729000-30737600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:30729800-30736800	Weak transcription	Liver	Liver
12	chr2:30732000-30738400	Enhancers	K562	blood
13	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
14	chr2:30732400-30735400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:30732800-30735400	Enhancers	Small Intestine	intestine
16	chr2:30732800-30735600	Enhancers	Hela-S3	cervix
17	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:30733000-30735600	Enhancers	Fetal Lung	lung
19	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:30733400-30735400	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:30733400-30735400	Enhancers	Fetal Intestine Large	intestine
22	chr2:30733400-30737400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:30733400-30737800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:30733600-30737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:30733800-30735400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:30733800-30735400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:30733800-30737800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:30734000-30735400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:30734000-30735400	Enhancers	Right Atrium	heart
30	chr2:30734000-30735400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:30734000-30735600	Enhancers	Ovary	ovary
32	chr2:30734000-30735800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:30734000-30738200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:30734000-30739000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:30734200-30735400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:30734200-30735400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:30734200-30735400	Enhancers	Left Ventricle	heart
38	chr2:30734200-30735600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:30734200-30735600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:30734400-30735400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:30734400-30735400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:30734400-30735400	Enhancers	Psoas Muscle	Psoas
43	chr2:30734400-30735800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:30734600-30735400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:30734600-30735400	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:30734600-30735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:30734600-30737200	Weak transcription	NH-A	brain
48	chr2:30734800-30735200	Enhancers	A549	lung
49	chr2:30734800-30735400	Enhancers	HepG2	liver
50	chr2:30734800-30735600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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