Variant report

Variant	rs7949887
Chromosome Location	chr11:64658348-64658349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:64657612-64659142	A549	lung:	n/a	n/a
2	POLR2A	chr11:64655234-64662268	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:64657690-64659405	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:64657987-64658791	HepG2	liver:	n/a	n/a
5	BCL3	chr11:64658023-64658492	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64544093..64547951-chr11:64656650..64658815,3	K562	blood:
2	11:64620201-64626490..11:64658316-64660295	Hela-S3	cervix:
3	chr11:64544093..64548175-chr11:64656540..64660044,4	K562	blood:
4	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
5	11:64544826-64559210..11:64658316-64660295	GM12878	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EHD1-2	chr11:64658158-64658547	ENSG00000267804.1

No data

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000203400	TF binding region
ENSG00000068971	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1211284	0.81[CHB][hapmap]
rs12801172	0.80[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs17146413	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs17146441	0.81[CHB][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs2077026	0.84[ASN][1000 genomes]
rs3937000	0.80[CEU][hapmap]
rs41381745	0.81[ASN][1000 genomes]
rs57851864	0.82[ASN][1000 genomes]
rs589556	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs602347	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs620066	0.82[CHB][hapmap]
rs621608	0.84[ASN][1000 genomes]
rs622611	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs641623	0.84[ASN][1000 genomes]
rs654580	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs656982	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs67679485	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7939874	0.81[CHB][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs7944276	0.80[CEU][hapmap];0.81[CHB][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
10	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
11	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64651600-64658600	Enhancers	Placenta	Placenta
2	chr11:64652800-64659800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:64655200-64658600	Enhancers	Pancreas	Pancrea
4	chr11:64655800-64658400	Enhancers	Liver	Liver
5	chr11:64655800-64660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:64655800-64663200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:64655800-64664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:64655800-64672800	Weak transcription	Psoas Muscle	Psoas
9	chr11:64656000-64659600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:64656000-64660600	Weak transcription	Left Ventricle	heart
11	chr11:64656000-64661400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:64656000-64661400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:64656000-64661400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:64656000-64661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:64656000-64661600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:64656000-64661600	Weak transcription	Esophagus	oesophagus
17	chr11:64656000-64661600	Weak transcription	Lung	lung
18	chr11:64656000-64662000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:64656000-64662000	Weak transcription	Brain Germinal Matrix	brain
20	chr11:64656000-64662000	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:64656000-64662000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:64656000-64662000	Weak transcription	Ovary	ovary
23	chr11:64656000-64662000	Weak transcription	NHLF	lung
24	chr11:64656000-64662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:64656000-64662200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:64656000-64662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:64656000-64662200	Weak transcription	Brain Substantia Nigra	brain
28	chr11:64656000-64662200	Weak transcription	Thymus	Thymus
29	chr11:64656000-64662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:64656000-64663000	Weak transcription	Primary T cells from cord blood	blood
31	chr11:64656000-64663200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:64656000-64663600	Weak transcription	Brain Anterior Caudate	brain
33	chr11:64656000-64663800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:64656000-64664000	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:64656000-64664200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:64656000-64664400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:64656000-64664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:64656000-64665600	Weak transcription	HMEC	breast
39	chr11:64656000-64674200	Weak transcription	NH-A	brain
40	chr11:64656000-64677800	Weak transcription	HUVEC	blood vessel
41	chr11:64656000-64683200	Weak transcription	HSMM	muscle
42	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
43	chr11:64656200-64661400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:64656200-64661400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:64656200-64661400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:64656200-64661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:64656200-64662000	Weak transcription	Dnd41	blood
48	chr11:64656400-64659000	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:64656400-64660000	Weak transcription	Fetal Thymus	thymus
50	chr11:64656400-64661000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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