Variant report

Variant	rs530002995
Chromosome Location	chr11:65122652-65122653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65082018..65083571-chr11:65121331..65123313,2	MCF-7	breast:
2	chr11:65099781..65103974-chr11:65120675..65126515,7	MCF-7	breast:
3	chr11:65110991..65113816-chr11:65120865..65125095,4	MCF-7	breast:
4	chr11:65122441..65125170-chr11:69458785..69461711,2	MCF-7	breast:
5	chr11:65105171..65109589-chr11:65119360..65123181,4	K562	blood:
6	chr11:65122242..65122800-chr12:72057275..72057819,2	Hela-S3	cervix:
7	chr11:65045328..65049022-chr11:65119140..65122878,4	MCF-7	breast:
8	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
9	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
10	chr11:65122004..65123879-chr11:65220475..65223059,2	K562	blood:
11	chr11:65120584..65123151-chr11:65148447..65152021,3	K562	blood:
12	chr11:65106450..65111070-chr11:65119360..65123401,6	K562	blood:
13	chr11:65121664..65123613-chr11:65147869..65150112,2	MCF-7	breast:
14	chr11:65099718..65102956-chr11:65121267..65125924,4	MCF-7	breast:
15	chr11:65122594..65124302-chr11:65342369..65344295,2	MCF-7	breast:
16	chr11:65122241..65124654-chr11:65375609..65378209,2	MCF-7	breast:
17	chr11:64971476..64974012-chr11:65120745..65123474,2	K562	blood:
18	chr11:65122121..65122705-chr3:138327239..138327942,2	Hela-S3	cervix:
19	chr1:202776745..202779308-chr11:65120833..65122777,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149798	Chromatin interaction
ENSG00000133858	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000158234	Chromatin interaction
ENSG00000173727	Chromatin interaction
ENSG00000117139	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000162241	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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 miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
6	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
7	nsv482159	chr11:65122282-65125082	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65121000-65123400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:65121200-65123000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:65121400-65123000	Active TSS	Brain Angular Gyrus	brain
4	chr11:65121400-65123200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:65121400-65123400	Active TSS	Fetal Brain Female	brain
6	chr11:65121400-65123600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:65121600-65123000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:65121600-65123000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:65121600-65123000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:65121600-65123000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:65121600-65123000	Active TSS	Colon Smooth Muscle	Colon
12	chr11:65121600-65123000	Active TSS	Fetal Brain Male	brain
13	chr11:65121600-65123000	Active TSS	Right Atrium	heart
14	chr11:65121600-65123200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:65121600-65123200	Active TSS	HSMM	muscle
16	chr11:65121600-65123400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:65121600-65123600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:65121800-65122800	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr11:65121800-65122800	Active TSS	A549	lung
20	chr11:65121800-65122800	Active TSS	HSMMtube	muscle
21	chr11:65121800-65123000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:65121800-65123000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:65121800-65123000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:65121800-65123000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:65121800-65123000	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:65121800-65123000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:65121800-65123000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:65121800-65123000	Active TSS	Brain Anterior Caudate	brain
29	chr11:65121800-65123000	Active TSS	Brain Cingulate Gyrus	brain
30	chr11:65121800-65123000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:65121800-65123000	Active TSS	Fetal Intestine Small	intestine
32	chr11:65121800-65123000	Active TSS	Psoas Muscle	Psoas
33	chr11:65121800-65123000	Active TSS	Small Intestine	intestine
34	chr11:65121800-65123000	Active TSS	Stomach Mucosa	stomach
35	chr11:65121800-65123400	Active TSS	Fetal Kidney	kidney
36	chr11:65121800-65123600	Active TSS	Aorta	Aorta
37	chr11:65122000-65123000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:65122000-65123000	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:65122000-65123000	Active TSS	Primary T cells from cord blood	blood
40	chr11:65122000-65123000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr11:65122000-65123000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:65122000-65123000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:65122000-65123000	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:65122000-65123000	Active TSS	Fetal Intestine Large	intestine
45	chr11:65122000-65123000	Active TSS	Left Ventricle	heart
46	chr11:65122000-65123000	Active TSS	Hela-S3	cervix
47	chr11:65122000-65123000	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:65122000-65123000	Active TSS	NHEK	skin
49	chr11:65122000-65123200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:65122000-65123200	Active TSS	Rectal Mucosa Donor 29	rectum

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