Variant report

Variant	rs948683
Chromosome Location	chr11:62397177-62397178
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:14)
LncRNA
region (count:0)
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	POLR2A	chr11:62396714-62397359	K562	blood:	n/a	n/a
2	POLR2A	chr11:62397116-62397593	U87	brain:	n/a	n/a
3	POLR2A	chr11:62397047-62397393	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:62396915-62397523	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:62396887-62400273	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62381310..62383705-chr11:62395490..62397598,2	K562	blood:
2	chr11:62395570..62398440-chr11:62412552..62414491,2	MCF-7	breast:
3	chr11:62395436..62397878-chr11:62402304..62403966,2	K562	blood:
4	chr11:62396871..62398840-chr11:62407356..62408928,2	MCF-7	breast:
5	chr11:62397128..62402024-chr11:62412665..62417059,9	K562	blood:
6	chr11:62396094..62398820-chr11:62399149..62402037,4	K562	blood:
7	chr11:62395998..62398078-chr11:62405851..62408404,2	MCF-7	breast:
8	chr11:62391837..62397393-chr11:62429147..62436074,7	K562	blood:
9	chr11:62395907..62397938-chr11:62400432..62402999,2	MCF-7	breast:
10	chr11:62388521..62391329-chr11:62396005..62398149,2	MCF-7	breast:
11	chr11:62396393..62398543-chr11:62429250..62431703,2	MCF-7	breast:
12	chr11:62394622..62397393-chr11:62432360..62435554,4	K562	blood:
13	chr11:62393961..62397589-chr11:62620781..62622689,3	K562	blood:
14	chr11:62395278..62397728-chr11:62472218..62474243,2	MCF-7	breast:

No data

Variant related genes	Relation type
GANAB	TF binding region
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12270159	1.00[AMR][1000 genomes]
rs12292661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1799959	1.00[EUR][1000 genomes]
rs2956992	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs4343028	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs4387351	1.00[EUR][1000 genomes]
rs55979088	1.00[EUR][1000 genomes]
rs631714	0.85[YRI][hapmap]
rs73502110	1.00[EUR][1000 genomes]

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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong 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	1401 gene(s)	inside rSNPs	diseases
4	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' 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	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' 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	489 gene(s)	inside rSNPs	diseases
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 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	chr11:62390000-62406800	Weak transcription	Right Atrium	heart
2	chr11:62390000-62413200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:62390400-62411800	Strong transcription	Fetal Intestine Small	intestine
4	chr11:62390600-62408600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:62390600-62412600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:62390800-62399600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:62390800-62407400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:62390800-62407600	Strong transcription	Osteobl	bone
9	chr11:62390800-62412400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:62390800-62412400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:62391000-62402600	Strong transcription	HSMM	muscle
12	chr11:62391000-62407400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:62391000-62408600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:62391000-62408800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:62391000-62412000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:62391200-62407400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:62391200-62407400	Strong transcription	Placenta	Placenta
18	chr11:62391200-62412400	Strong transcription	Fetal Stomach	stomach
19	chr11:62391400-62407000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:62392000-62402400	Strong transcription	Fetal Brain Female	brain
21	chr11:62392000-62407800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:62392000-62409200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:62392000-62409200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:62392200-62406200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:62392200-62407000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:62392200-62407000	Strong transcription	Liver	Liver
27	chr11:62392200-62407400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:62392200-62407400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:62392200-62407400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:62392400-62401000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:62392400-62401400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:62392400-62402400	Strong transcription	Right Ventricle	heart
33	chr11:62392400-62402600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:62392400-62402600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:62392400-62402600	Strong transcription	HSMMtube	muscle
36	chr11:62392400-62403200	Strong transcription	A549	lung
37	chr11:62392400-62407000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:62392400-62407400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:62392400-62407400	Strong transcription	Adipose Nuclei	Adipose
40	chr11:62392400-62407400	Strong transcription	Brain Germinal Matrix	brain
41	chr11:62392400-62407600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:62392400-62407600	Strong transcription	Fetal Thymus	thymus
43	chr11:62392400-62411800	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:62392600-62398600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:62392600-62398800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:62392600-62398800	Strong transcription	Aorta	Aorta
47	chr11:62392600-62399800	Strong transcription	Rectal Smooth Muscle	rectum
48	chr11:62392600-62399800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:62392600-62400000	Strong transcription	Gastric	stomach
50	chr11:62392600-62401600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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