Variant report

Variant	rs6980049
Chromosome Location	chr7:140228727-140228728
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10237118	0.82[EUR][1000 genomes]
rs10277628	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10280493	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977004	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538386	0.86[EUR][1000 genomes]
rs2363830	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269251	1.00[ASN][1000 genomes]
rs269252	1.00[ASN][1000 genomes]
rs6464818	0.82[AMR][1000 genomes]
rs6464833	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942494	0.82[EUR][1000 genomes]
rs6943477	0.88[EUR][1000 genomes]
rs6948434	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948774	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952208	0.96[EUR][1000 genomes]
rs6952414	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6952999	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975258	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976066	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1019815	chr7:140206590-140235677	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140206800-140233200	Weak transcription	Brain Angular Gyrus	brain
2	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
3	chr7:140216800-140229000	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:140216800-140230600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:140218200-140241400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:140219000-140233200	Weak transcription	NHDF-Ad	bronchial
7	chr7:140219200-140240800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:140219400-140229000	Strong transcription	Fetal Stomach	stomach
9	chr7:140219600-140240800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:140219800-140233200	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:140222000-140234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:140223400-140241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:140223600-140235000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:140223600-140238000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:140223600-140240800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:140223800-140234400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:140224000-140233200	Weak transcription	Placenta	Placenta
18	chr7:140224000-140239200	Weak transcription	Brain Anterior Caudate	brain
19	chr7:140226000-140229800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:140226000-140241000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:140226000-140241400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:140226000-140244000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:140226000-140244000	Weak transcription	Pancreas	Pancrea
24	chr7:140226200-140241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:140226200-140262800	Weak transcription	Gastric	stomach
26	chr7:140226400-140232400	Weak transcription	Colonic Mucosa	Colon
27	chr7:140226400-140232400	Weak transcription	Left Ventricle	heart
28	chr7:140226400-140233200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:140226400-140237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:140226400-140239200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:140226600-140233000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:140226600-140233200	Weak transcription	Ovary	ovary
33	chr7:140226600-140240200	Weak transcription	Right Ventricle	heart
34	chr7:140226600-140241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:140226600-140241400	Weak transcription	Fetal Intestine Large	intestine
36	chr7:140226800-140239000	Weak transcription	Fetal Kidney	kidney
37	chr7:140226800-140240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:140227000-140233200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:140227000-140238800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:140227200-140232400	Weak transcription	Fetal Brain Female	brain
41	chr7:140227200-140233200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:140227200-140234600	Weak transcription	Spleen	Spleen
43	chr7:140227200-140239400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:140227400-140232400	Weak transcription	Fetal Intestine Small	intestine
45	chr7:140227400-140233000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:140227400-140233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:140227400-140233200	Weak transcription	NHLF	lung
48	chr7:140227400-140239200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:140227400-140241000	Weak transcription	Right Atrium	heart
50	chr7:140227600-140229800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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