Variant report

Variant	rs11767977
Chromosome Location	chr7:111813528-111813529
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	chr7:111810986..111813749-chr7:111822095..111824188,2	K562	blood:
2	chr7:111807988..111810235-chr7:111812835..111815049,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10428921	0.95[ASN][1000 genomes]
rs10487346	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487347	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953705	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11534046	0.91[AMR][1000 genomes]
rs11535292	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11535293	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11536572	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11543793	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11543795	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11561997	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11762310	0.98[ASN][1000 genomes]
rs11764180	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11764346	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764420	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764460	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765157	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765160	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767847	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768012	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768647	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770983	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11772020	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971191	0.95[ASN][1000 genomes]
rs17159328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159330	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17159336	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17159341	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17567733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567768	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801797	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9641481	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111796000-111813800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:111803000-111825400	Weak transcription	NHEK	skin
4	chr7:111803400-111813600	Weak transcription	Left Ventricle	heart
5	chr7:111803600-111820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:111804200-111813600	Weak transcription	Right Atrium	heart
8	chr7:111804200-111816200	Weak transcription	HepG2	liver
9	chr7:111804200-111816800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:111804800-111817400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:111805600-111813800	Weak transcription	Ovary	ovary
12	chr7:111808800-111822800	Weak transcription	Pancreas	Pancrea
13	chr7:111810000-111813600	Weak transcription	Lung	lung
14	chr7:111812000-111814800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:111812000-111824200	Enhancers	Brain Substantia Nigra	brain
16	chr7:111812200-111813600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:111812200-111817000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:111812400-111814200	Enhancers	Fetal Brain Male	brain
19	chr7:111812400-111817400	Enhancers	HUVEC	blood vessel
20	chr7:111812400-111819400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:111812400-111822400	Enhancers	Brain Anterior Caudate	brain
22	chr7:111812600-111817000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:111812600-111818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:111812800-111814400	Enhancers	Adipose Nuclei	Adipose
25	chr7:111813000-111813600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:111813000-111813600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:111813000-111813800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr7:111813000-111813800	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:111813000-111813800	Enhancers	NHDF-Ad	bronchial
30	chr7:111813000-111814000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:111813000-111814000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:111813000-111814000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:111813000-111814000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:111813000-111814000	Enhancers	Fetal Kidney	kidney
35	chr7:111813000-111814000	Enhancers	Fetal Lung	lung
36	chr7:111813000-111814000	Enhancers	Fetal Stomach	stomach
37	chr7:111813000-111814000	Enhancers	HSMM	muscle
38	chr7:111813000-111814000	Enhancers	HSMMtube	muscle
39	chr7:111813000-111814400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:111813000-111814400	Enhancers	Brain Angular Gyrus	brain
41	chr7:111813000-111814400	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:111813000-111814400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:111813000-111814400	Enhancers	Psoas Muscle	Psoas
44	chr7:111813200-111813800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:111813200-111813800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:111813200-111814000	Enhancers	Brain Germinal Matrix	brain
47	chr7:111813200-111814000	Enhancers	Fetal Muscle Leg	muscle
48	chr7:111813200-111814600	Enhancers	Right Ventricle	heart
49	chr7:111813400-111813800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:111813400-111814000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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