Variant report

Variant	rs12270596
Chromosome Location	chr11:9984974-9984975
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	chr11:9482450..9484248-chr11:9984519..9986171,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11042504	1.00[AMR][1000 genomes]
rs11042537	1.00[AMR][1000 genomes]
rs11042538	1.00[AMR][1000 genomes]
rs11042544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042565	0.87[AFR][1000 genomes]
rs11042587	1.00[EUR][1000 genomes]
rs11042597	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042600	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11042649	1.00[EUR][1000 genomes]
rs12270444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276925	0.92[AFR][1000 genomes]
rs12279495	0.87[AFR][1000 genomes]
rs12290340	1.00[AMR][1000 genomes]
rs12294282	1.00[AMR][1000 genomes]
rs12295264	1.00[AMR][1000 genomes]
rs13377319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377352	1.00[AMR][1000 genomes]
rs13377561	0.87[AFR][1000 genomes]
rs56656104	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57108291	1.00[AMR][1000 genomes]
rs57125659	1.00[AMR][1000 genomes]
rs57669768	1.00[AMR][1000 genomes]
rs58442208	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7358470	1.00[AMR][1000 genomes]
rs9630162	1.00[AMR][1000 genomes]
rs9971601	1.00[AMR][1000 genomes]
rs9988844	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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1819684	chr11:9973062-10012511	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9952800-9995200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9973000-9986000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9973800-10010600	Weak transcription	Fetal Brain Male	brain
4	chr11:9974200-9994400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:9974200-9994600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:9974200-9994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:9974200-9999000	Weak transcription	Fetal Heart	heart
8	chr11:9974200-9999000	Weak transcription	HSMMtube	muscle
9	chr11:9975400-9985600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:9977000-9994400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:9978600-9986000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:9978800-9985000	Weak transcription	Small Intestine	intestine
13	chr11:9979400-9986000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:9979400-9995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:9979600-9985600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:9979600-9985800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:9979600-9994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:9979800-9987400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:9979800-9999200	Weak transcription	NH-A	brain
20	chr11:9980200-9985800	Strong transcription	Liver	Liver
21	chr11:9980200-9985800	Strong transcription	Placenta	Placenta
22	chr11:9980200-9986000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:9981200-9988400	Weak transcription	HMEC	breast
25	chr11:9981200-9990000	Weak transcription	A549	lung
26	chr11:9981200-9990600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:9981200-9995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:9981200-10004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:9981200-10009200	Weak transcription	Brain Germinal Matrix	brain
30	chr11:9981400-9985000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:9981400-9985400	Weak transcription	Fetal Intestine Small	intestine
32	chr11:9981400-9985600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:9981400-9986600	Weak transcription	Pancreas	Pancrea
34	chr11:9981400-9987000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9981400-9989000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:9981400-9989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:9981400-9989600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:9981400-9990600	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:9981400-9990600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:9981400-9992200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:9981400-9993400	Weak transcription	Spleen	Spleen
42	chr11:9981400-9994400	Weak transcription	HUVEC	blood vessel
43	chr11:9981400-9994600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:9981400-9994600	Weak transcription	NHLF	lung
45	chr11:9981400-9994800	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:9981400-9995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:9981400-9995200	Weak transcription	Brain Angular Gyrus	brain
48	chr11:9981400-9995400	Weak transcription	Right Ventricle	heart
49	chr11:9981400-9999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:9981400-10002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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