Variant report

Variant	rs11983491
Chromosome Location	chr7:140206056-140206057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140199959..140203037-chr7:140204634..140207948,3	K562	blood:
2	chr7:140199121..140201459-chr7:140204634..140207029,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11769715	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13224211	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13240511	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2363820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363821	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35619729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4726876	0.81[EUR][1000 genomes]
rs55787138	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7455575	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7783408	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790410	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464734	chr7:140108096-140217670	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv608500	chr7:140108096-140217670	Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv437576	chr7:140182985-140217670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv2761112	chr7:140191538-140234571	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1030690	chr7:140192859-140207000	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv464735	chr7:140195463-140233585	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv608501	chr7:140195463-140233585	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv1033685	chr7:140197079-140224303	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1015856	chr7:140197079-140235677	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv1032716	chr7:140198540-140214067	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1018535	chr7:140198540-140224303	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140192200-140206800	Weak transcription	Right Atrium	heart
2	chr7:140193000-140206600	Weak transcription	Colonic Mucosa	Colon
3	chr7:140198400-140206400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:140202200-140206200	Weak transcription	Left Ventricle	heart
5	chr7:140202200-140206200	Weak transcription	K562	blood
6	chr7:140202200-140206400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:140202200-140206800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:140202400-140206200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:140202400-140206400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:140202400-140206600	Weak transcription	Pancreas	Pancrea
11	chr7:140202400-140206800	Weak transcription	Stomach Mucosa	stomach
12	chr7:140205200-140208000	Enhancers	Fetal Muscle Leg	muscle
13	chr7:140205400-140206200	Weak transcription	Ovary	ovary
14	chr7:140205400-140206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:140205600-140206200	Enhancers	Stomach Smooth Muscle	stomach
16	chr7:140205800-140206400	Enhancers	Colon Smooth Muscle	Colon
17	chr7:140205800-140206800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
19	chr7:140206000-140206200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:140206000-140206400	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:140206000-140207200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:140206000-140207400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:140206000-140207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:140206000-140207400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:140206000-140208800	Enhancers	Fetal Heart	heart

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