Variant report

Variant	rs56237750
Chromosome Location	chr11:73374356-73374357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175582	Chromatin interaction
ENSG00000256034	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11822264	1.00[EUR][1000 genomes]
rs11822655	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	1.00[EUR][1000 genomes]
rs11825819	1.00[EUR][1000 genomes]
rs11826017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11827951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829012	1.00[EUR][1000 genomes]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132408	1.00[EUR][1000 genomes]
rs17132421	1.00[EUR][1000 genomes]
rs17132422	1.00[EUR][1000 genomes]
rs17132438	1.00[EUR][1000 genomes]
rs2462620	1.00[EUR][1000 genomes]
rs2512635	1.00[EUR][1000 genomes]
rs56378817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	1.00[EUR][1000 genomes]
rs59610227	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59621450	1.00[EUR][1000 genomes]
rs60924318	1.00[EUR][1000 genomes]
rs61581672	1.00[EUR][1000 genomes]
rs61616797	1.00[EUR][1000 genomes]
rs61701946	1.00[EUR][1000 genomes]
rs645579	1.00[EUR][1000 genomes]
rs675838	1.00[EUR][1000 genomes]
rs676346	1.00[EUR][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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
2	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:73372200-73375600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:73372400-73374400	Weak transcription	Psoas Muscle	Psoas
5	chr11:73372400-73374800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:73372400-73375000	Weak transcription	Left Ventricle	heart
7	chr11:73372400-73388200	Weak transcription	HSMMtube	muscle
8	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:73372600-73374400	Strong transcription	Brain Substantia Nigra	brain
10	chr11:73372600-73374600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:73372600-73374600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:73372600-73374600	Weak transcription	Right Atrium	heart
13	chr11:73372600-73374800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:73372600-73375000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:73372600-73375000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:73372600-73375000	Weak transcription	Fetal Kidney	kidney
17	chr11:73372600-73375000	Weak transcription	Lung	lung
18	chr11:73372600-73383000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:73372600-73384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:73372600-73385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73372600-73385200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:73372600-73385200	Weak transcription	Liver	Liver
23	chr11:73372600-73385200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:73372600-73385400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:73372600-73385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:73372600-73388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:73372600-73388200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:73372600-73388400	Weak transcription	Dnd41	blood
29	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
30	chr11:73372800-73374400	Weak transcription	Primary T cells from cord blood	blood
31	chr11:73372800-73374400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:73372800-73374400	Weak transcription	Spleen	Spleen
33	chr11:73372800-73374600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:73372800-73374600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:73372800-73374600	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:73372800-73375000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:73372800-73375000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:73372800-73375000	Weak transcription	Fetal Intestine Small	intestine
39	chr11:73372800-73375400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:73372800-73375400	Weak transcription	HSMM	muscle
41	chr11:73372800-73375600	Weak transcription	Right Ventricle	heart
42	chr11:73372800-73381200	Weak transcription	Fetal Stomach	stomach
43	chr11:73372800-73382000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:73372800-73382600	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:73372800-73382800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:73372800-73385000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:73372800-73385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:73372800-73385400	Weak transcription	Fetal Intestine Large	intestine
49	chr11:73372800-73388400	Weak transcription	NHLF	lung
50	chr11:73372800-73390600	Weak transcription	HUVEC	blood vessel

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