Variant report

Variant	rs11978232
Chromosome Location	chr7:83654094-83654095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11974894	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11975312	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11976049	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357814	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1404473	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1534074	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2372019	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2372021	0.82[AMR][1000 genomes]
rs2372022	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2888219	0.82[AMR][1000 genomes]
rs35010413	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35055790	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6949547	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6978663	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7793814	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:83634800-83654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83635000-83654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:83636200-83654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83647200-83654800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:83648400-83654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:83649600-83654200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:83651000-83654600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:83652200-83680200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:83652400-83654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:83652400-83654600	Weak transcription	NHLF	lung
14	chr7:83652400-83671400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:83652600-83654600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:83652600-83654800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:83652600-83654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:83652600-83655000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:83652800-83654400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:83652800-83654600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:83652800-83654600	Weak transcription	Adipose Nuclei	Adipose
22	chr7:83652800-83654600	Weak transcription	NHEK	skin
23	chr7:83653000-83654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:83653000-83654200	Weak transcription	HMEC	breast
25	chr7:83653000-83654600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:83653000-83654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:83653000-83654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:83653000-83654600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:83653000-83654600	Weak transcription	Fetal Heart	heart
30	chr7:83653000-83654600	Weak transcription	Fetal Intestine Large	intestine
31	chr7:83653000-83654600	Weak transcription	Fetal Lung	lung
32	chr7:83653000-83654600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:83653000-83654600	Enhancers	A549	lung
34	chr7:83653000-83654600	Weak transcription	Hela-S3	cervix
35	chr7:83653000-83654600	Weak transcription	HepG2	liver
36	chr7:83653000-83654800	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:83653000-83654800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:83653200-83654600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:83653800-83654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:83653800-83655000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:83653800-83655000	Enhancers	NHDF-Ad	bronchial
42	chr7:83653800-83655600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:83653800-83655600	Enhancers	HUVEC	blood vessel
44	chr7:83654000-83654400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:83654000-83654600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:83654000-83655000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:83654000-83655000	Enhancers	NH-A	brain
48	chr7:83654000-83655200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:83654000-83655600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:83654000-83655600	Enhancers	Osteobl	bone

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