Variant report

Variant	rs11229113
Chromosome Location	chr11:57510823-57510824
allele	G/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57508432..57511977-chr11:57530270..57533342,3	MCF-7	breast:
2	chr11:57440494..57443306-chr11:57507739..57511429,4	K562	blood:
3	chr11:57507833..57511012-chr11:57515890..57519512,4	MCF-7	breast:
4	chr11:57509911..57512073-chr11:57545879..57548404,2	MCF-7	breast:
5	chr11:57510308..57513231-chr11:57562462..57564393,2	K562	blood:
6	chr11:57478095..57482223-chr11:57507421..57512003,5	K562	blood:
7	chr11:57510465..57513227-chr11:57564022..57568202,4	K562	blood:
8	chr11:57510237..57513047-chr11:57544366..57548086,3	MCF-7	breast:
9	chr11:57478095..57481312-chr11:57507421..57511942,8	K562	blood:
10	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
11	chr11:57431371..57436913-chr11:57505728..57511660,10	K562	blood:
12	chr11:57478057..57480948-chr11:57506438..57510938,4	MCF-7	breast:
13	chr11:57500332..57503212-chr11:57510757..57513480,2	K562	blood:
14	chr11:57193239..57196131-chr11:57510103..57512063,2	K562	blood:
15	chr11:57508686..57513679-chr11:57564628..57569734,7	K562	blood:
16	chr11:57500164..57502598-chr11:57510322..57513009,2	MCF-7	breast:
17	chr11:57508369..57511140-chr11:57577565..57580322,2	MCF-7	breast:
18	chr11:57510288..57512656-chr11:57528319..57530305,2	K562	blood:
19	chr11:57508846..57511581-chr11:57547881..57549731,2	K562	blood:
20	chr11:57507427..57512619-chr11:57528805..57534217,7	K562	blood:
21	chr11:57439534..57442360-chr11:57509028..57511429,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254602	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000233436	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000166793	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000198561	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10792112	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896633	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896636	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896647	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229116	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229130	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11229131	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11229148	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11570190	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11601449	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602109	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604325	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604333	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605731	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606396	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607056	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146541	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362166	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12785533	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12790196	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804972	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12805841	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12807250	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1647405	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17455520	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2847308	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2926656	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35808061	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781885	0.88[EUR][1000 genomes]
rs4827	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488769	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs499188	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs527528	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs543725	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs547891	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576859	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs708228	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116341	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117878	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121169	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129727	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71484461	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484468	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932091	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7936998	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7938083	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7949841	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9420	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11229113	MED19	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57509800-57511200	Weak transcription	Aorta	Aorta
2	chr11:57509800-57519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:57510000-57511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:57510200-57511000	Genic enhancers	Fetal Thymus	thymus
5	chr11:57510200-57511600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:57510200-57512200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:57510200-57513000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:57510200-57513200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr11:57510200-57513600	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr11:57510200-57514800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:57510200-57518400	Weak transcription	Psoas Muscle	Psoas
12	chr11:57510400-57511000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:57510400-57511000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:57510400-57511000	Enhancers	Brain Angular Gyrus	brain
15	chr11:57510400-57511000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:57510400-57511000	Weak transcription	Brain Substantia Nigra	brain
17	chr11:57510400-57511000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:57510400-57511000	Weak transcription	Esophagus	oesophagus
19	chr11:57510400-57511000	Weak transcription	Fetal Brain Male	brain
20	chr11:57510400-57511000	Weak transcription	Spleen	Spleen
21	chr11:57510400-57511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:57510400-57511200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:57510400-57511200	Weak transcription	Gastric	stomach
24	chr11:57510400-57511200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:57510400-57511200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:57510400-57511200	Weak transcription	NHDF-Ad	bronchial
27	chr11:57510400-57511400	Genic enhancers	Fetal Stomach	stomach
28	chr11:57510400-57511600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:57510400-57511800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:57510400-57512000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:57510400-57512400	Strong transcription	Fetal Kidney	kidney
32	chr11:57510400-57512400	Strong transcription	HepG2	liver
33	chr11:57510400-57512600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:57510400-57512600	Strong transcription	Fetal Lung	lung
35	chr11:57510400-57512600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr11:57510400-57512800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:57510400-57513000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:57510400-57513200	Strong transcription	NHEK	skin
39	chr11:57510400-57513600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:57510400-57513600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:57510400-57513600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:57510400-57513600	Strong transcription	Colonic Mucosa	Colon
43	chr11:57510400-57513600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:57510400-57513600	Strong transcription	NHLF	lung
45	chr11:57510400-57513800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:57510400-57513800	Strong transcription	Brain Anterior Caudate	brain
47	chr11:57510400-57513800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:57510400-57514600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:57510400-57514600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:57510400-57514600	Strong transcription	Placenta	Placenta

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