Variant report

Variant	rs314776
Chromosome Location	chr11:68133035-68133036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67979201..67981075-chr11:68132333..68133917,2	K562	blood:
2	chr11:68124164..68126816-chr11:68131354..68133171,2	K562	blood:
3	chr11:68122151..68124097-chr11:68131732..68133388,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110066	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs160517	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs160607	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs178352	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1784237	0.82[AMR][1000 genomes]
rs312778	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs312779	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs312780	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs312782	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312783	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312784	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs312785	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312788	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312790	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312791	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs312792	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs314761	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs314775	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs587808	0.83[AMR][1000 genomes]
rs643892	0.83[AMR][1000 genomes]
rs643981	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs659605	0.83[AMR][1000 genomes]
rs671191	0.83[AMR][1000 genomes]
rs74744	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs91285	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
4	chr11:68115400-68135200	Strong transcription	HepG2	liver
5	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:68121800-68137400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:68122000-68137800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:68122200-68139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:68122600-68138200	Weak transcription	HUVEC	blood vessel
11	chr11:68122800-68137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:68123200-68136800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:68123200-68137000	Weak transcription	Psoas Muscle	Psoas
14	chr11:68123200-68137200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:68123200-68139600	Weak transcription	Brain Substantia Nigra	brain
16	chr11:68123400-68136000	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:68124000-68137400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:68124800-68146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:68125200-68136000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:68125800-68136000	Strong transcription	Right Ventricle	heart
21	chr11:68126000-68136600	Weak transcription	Right Atrium	heart
22	chr11:68126200-68136200	Strong transcription	Liver	Liver
23	chr11:68126200-68136800	Weak transcription	Fetal Heart	heart
24	chr11:68126600-68137200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:68126600-68137600	Weak transcription	NHLF	lung
26	chr11:68126800-68133400	Weak transcription	Small Intestine	intestine
27	chr11:68126800-68135400	Weak transcription	HMEC	breast
28	chr11:68126800-68137400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:68126800-68138200	Weak transcription	HSMM	muscle
30	chr11:68126800-68138200	Weak transcription	NH-A	brain
31	chr11:68127000-68133600	Weak transcription	Primary T cells from cord blood	blood
32	chr11:68127000-68133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:68127000-68136600	Weak transcription	K562	blood
34	chr11:68127000-68137200	Weak transcription	Brain Anterior Caudate	brain
35	chr11:68127000-68137600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:68127000-68137800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:68127000-68138000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:68127000-68140800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:68128000-68134000	Weak transcription	Fetal Lung	lung
40	chr11:68128000-68134200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:68128000-68135800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:68128000-68140800	Weak transcription	Fetal Brain Male	brain
43	chr11:68128200-68133400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:68128200-68133400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:68128200-68133600	Weak transcription	Dnd41	blood
46	chr11:68128200-68134600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:68128200-68136800	Weak transcription	Aorta	Aorta
48	chr11:68128200-68140800	Weak transcription	Osteobl	bone
49	chr11:68128200-68153800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:68129600-68133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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