Variant report

Variant	rs190483857
Chromosome Location	chr11:71162582-71162583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:71162507-71163273	K562	blood:	n/a	n/a
2	USF1	chr11:71162580-71163098	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71157940..71161417-chr11:71161465..71165970,9	K562	blood:
2	chr11:71162324..71166430-chr11:71186520..71190924,4	K562	blood:
3	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:
4	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:

No data

Variant related genes	Relation type
DHCR7	TF binding region
NADSYN1	TF binding region
ENSG00000254682	Chromatin interaction
ENSG00000172890	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000204572	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71160400-71162800	Weak transcription	Gastric	stomach
2	chr11:71160400-71163000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71160600-71162600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:71160600-71162800	Enhancers	Primary B cells from cord blood	blood
5	chr11:71160600-71163000	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:71160600-71163000	Weak transcription	Placenta	Placenta
7	chr11:71160600-71163000	Weak transcription	Left Ventricle	heart
8	chr11:71160600-71163000	Weak transcription	Right Atrium	heart
9	chr11:71160600-71163400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71160600-71163400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:71160600-71163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:71160600-71163400	Weak transcription	HSMMtube	muscle
13	chr11:71160800-71162600	Enhancers	Brain Anterior Caudate	brain
14	chr11:71160800-71162600	Weak transcription	Fetal Kidney	kidney
15	chr11:71160800-71162600	Weak transcription	Lung	lung
16	chr11:71160800-71162600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:71160800-71162600	Weak transcription	NHDF-Ad	bronchial
18	chr11:71160800-71162800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:71160800-71162800	Weak transcription	Right Ventricle	heart
20	chr11:71160800-71163000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:71160800-71163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:71160800-71163000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:71160800-71163000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:71160800-71163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:71160800-71163000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:71160800-71163000	Weak transcription	Esophagus	oesophagus
27	chr11:71160800-71163000	Weak transcription	Fetal Heart	heart
28	chr11:71160800-71163000	Weak transcription	Pancreas	Pancrea
29	chr11:71160800-71163000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:71160800-71163000	Weak transcription	Stomach Mucosa	stomach
31	chr11:71160800-71163000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:71160800-71163200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:71160800-71163200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:71160800-71163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:71160800-71163400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:71160800-71163400	Enhancers	Fetal Intestine Small	intestine
37	chr11:71160800-71163400	Weak transcription	Ovary	ovary
38	chr11:71160800-71163600	Weak transcription	Aorta	Aorta
39	chr11:71161000-71162600	Weak transcription	Osteobl	bone
40	chr11:71161000-71162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:71161000-71162800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:71161000-71162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:71161000-71162800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:71161000-71162800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:71161000-71162800	Weak transcription	Small Intestine	intestine
46	chr11:71161000-71163000	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:71161000-71163000	Weak transcription	Colonic Mucosa	Colon
48	chr11:71161000-71163000	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:71161000-71163000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:71161000-71163000	Weak transcription	Psoas Muscle	Psoas

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