Variant report

Variant	rs7949789
Chromosome Location	chr11:120041110-120041111
allele	A/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120036264..120041871-chr11:120106231..120109757,9	K562	blood:
2	chr11:120039493..120041713-chr11:120171400..120173344,2	MCF-7	breast:
3	chr11:120037531..120041521-chr11:120105416..120108760,8	K562	blood:
4	chr11:120040154..120042795-chr11:120100030..120102523,3	K562	blood:
5	chr11:120040035..120042877-chr11:120088247..120091000,2	K562	blood:
6	chr11:119991248..119994128-chr11:120040682..120043338,2	K562	blood:
7	chr11:120040105..120041638-chr11:120170388..120172497,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11217755	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12418601	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12419025	0.93[ASN][1000 genomes]
rs12421142	1.00[ASN][1000 genomes]
rs2848728	0.98[ASN][1000 genomes]
rs2851718	0.82[JPT][hapmap]
rs35650539	1.00[ASN][1000 genomes]
rs4938788	0.94[ASN][1000 genomes]
rs4938789	0.94[ASN][1000 genomes]
rs4938791	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs566935	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs582071	0.97[ASN][1000 genomes]
rs604413	0.99[ASN][1000 genomes]
rs618265	0.91[EUR][1000 genomes]
rs61900474	0.92[ASN][1000 genomes]
rs61900479	1.00[ASN][1000 genomes]
rs620602	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs626151	0.99[ASN][1000 genomes]
rs657898	0.95[ASN][1000 genomes]
rs659912	0.98[ASN][1000 genomes]
rs666432	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs673292	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120039200-120041200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:120039800-120041200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr11:120040200-120041400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120040600-120041200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120040600-120041200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:120040600-120042800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:120040600-120049000	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:120040600-120049600	Weak transcription	Right Atrium	heart
9	chr11:120040800-120041200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:120040800-120041200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:120040800-120041200	Bivalent Enhancer	Fetal Brain Female	brain
12	chr11:120040800-120041800	Enhancers	Liver	Liver
13	chr11:120040800-120042000	Weak transcription	Spleen	Spleen
14	chr11:120040800-120042600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:120040800-120043200	Weak transcription	Gastric	stomach
16	chr11:120040800-120043200	Weak transcription	Pancreas	Pancrea
17	chr11:120041000-120041400	Enhancers	Brain Hippocampus Middle	brain
18	chr11:120041000-120041400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:120041000-120041600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:120041000-120043200	Weak transcription	Esophagus	oesophagus

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