Variant report

Variant	rs73592756
Chromosome Location	chr11:121171801-121171802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:121171758-121171908	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:121170959-121171921	K562	blood:	n/a	n/a
3	POLR2A	chr11:121171705-121171899	MCF10A-Er-Src	breast:	n/a	n/a
4	KAP1	chr11:121170972-121171875	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121165790..121168233-chr11:121171467..121173048,2	K562	blood:
2	chr11:121162777..121166095-chr11:121169824..121173301,4	MCF-7	breast:

Variant related genes	Relation type
SC5D	TF binding region
ENSG00000109929	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10502248	1.00[EUR][1000 genomes]
rs11606279	1.00[EUR][1000 genomes]
rs12278183	1.00[EUR][1000 genomes]
rs17124838	1.00[EUR][1000 genomes]
rs17124943	1.00[EUR][1000 genomes]
rs17125003	1.00[EUR][1000 genomes]
rs17125005	1.00[EUR][1000 genomes]
rs17125007	1.00[EUR][1000 genomes]
rs17125013	1.00[EUR][1000 genomes]
rs17125022	1.00[ASN][1000 genomes]
rs17125066	1.00[EUR][1000 genomes]
rs2077203	1.00[EUR][1000 genomes]
rs56068090	1.00[EUR][1000 genomes]
rs57169355	1.00[EUR][1000 genomes]
rs57946918	1.00[ASN][1000 genomes]
rs58182842	1.00[ASN][1000 genomes]
rs59174011	1.00[EUR][1000 genomes]
rs59976776	1.00[EUR][1000 genomes]
rs60234153	1.00[ASN][1000 genomes]
rs626945	1.00[EUR][1000 genomes]
rs649404	1.00[EUR][1000 genomes]
rs667418	1.00[EUR][1000 genomes]
rs7103341	1.00[EUR][1000 genomes]
rs7112214	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120718	1.00[EUR][1000 genomes]
rs7122846	1.00[EUR][1000 genomes]
rs73583180	1.00[EUR][1000 genomes]
rs73583183	1.00[EUR][1000 genomes]
rs73583186	1.00[EUR][1000 genomes]
rs73583187	1.00[EUR][1000 genomes]
rs73583191	1.00[EUR][1000 genomes]
rs73583193	1.00[EUR][1000 genomes]
rs73583199	1.00[EUR][1000 genomes]
rs73584905	1.00[EUR][1000 genomes]
rs73584909	1.00[EUR][1000 genomes]
rs73584914	1.00[EUR][1000 genomes]
rs73584917	1.00[EUR][1000 genomes]
rs73592731	1.00[EUR][1000 genomes]
rs73592747	1.00[EUR][1000 genomes]
rs73592754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592762	1.00[ASN][1000 genomes]
rs73592766	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73596704	1.00[EUR][1000 genomes]
rs73599482	1.00[EUR][1000 genomes]
rs73599484	1.00[EUR][1000 genomes]
rs73599490	1.00[EUR][1000 genomes]
rs73599492	1.00[EUR][1000 genomes]
rs73601425	1.00[EUR][1000 genomes]
rs763681	1.00[EUR][1000 genomes]
rs7924615	1.00[EUR][1000 genomes]
rs7926577	1.00[EUR][1000 genomes]
rs7932909	1.00[EUR][1000 genomes]
rs7942732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946427	1.00[EUR][1000 genomes]
rs891435	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898426	chr11:121136604-121206354	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121164000-121181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:121164200-121177200	Weak transcription	Placenta	Placenta
3	chr11:121164200-121179600	Weak transcription	Spleen	Spleen
4	chr11:121164200-121183000	Weak transcription	Esophagus	oesophagus
5	chr11:121164400-121174600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:121164400-121174600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:121164400-121175000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:121164400-121177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:121164400-121177400	Weak transcription	Lung	lung
10	chr11:121164400-121177600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:121164400-121179400	Weak transcription	Colonic Mucosa	Colon
12	chr11:121164400-121183000	Weak transcription	Fetal Stomach	stomach
13	chr11:121164600-121175000	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:121164600-121175000	Weak transcription	Fetal Thymus	thymus
15	chr11:121164600-121175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:121164600-121177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:121164600-121177600	Weak transcription	Aorta	Aorta
18	chr11:121164600-121180200	Weak transcription	K562	blood
19	chr11:121164800-121175000	Weak transcription	Primary B cells from cord blood	blood
20	chr11:121164800-121175000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:121164800-121175000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:121164800-121175000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:121164800-121177000	Weak transcription	Brain Germinal Matrix	brain
24	chr11:121164800-121177200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:121164800-121177200	Weak transcription	Fetal Kidney	kidney
26	chr11:121164800-121177200	Weak transcription	Osteobl	bone
27	chr11:121164800-121177400	Weak transcription	Thymus	Thymus
28	chr11:121164800-121182000	Weak transcription	A549	lung
29	chr11:121165000-121174400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:121165000-121175000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:121165000-121175400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:121165000-121176000	Weak transcription	Fetal Intestine Large	intestine
33	chr11:121165000-121177200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:121165000-121177200	Weak transcription	Brain Substantia Nigra	brain
35	chr11:121165000-121189400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:121165200-121174000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:121165200-121174200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:121165200-121174600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:121165200-121174800	Weak transcription	NHDF-Ad	bronchial
40	chr11:121165200-121175000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:121165200-121175000	Weak transcription	NH-A	brain
42	chr11:121165200-121175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:121165600-121174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:121165600-121175600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:121165800-121173800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:121165800-121174800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:121165800-121175000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:121166000-121175000	Weak transcription	HUVEC	blood vessel
49	chr11:121166000-121176000	Weak transcription	NHLF	lung
50	chr11:121166400-121175000	Weak transcription	Brain Inferior Temporal Lobe	brain

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