Variant report

Variant	rs73487622
Chromosome Location	chr7:140239599-140239600
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	chr7:140233192..140234849-chr7:140239387..140241238,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11771129	1.00[AMR][1000 genomes]
rs73483934	0.85[AFR][1000 genomes]
rs73483942	0.85[AFR][1000 genomes]
rs73485799	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487670	0.85[AFR][1000 genomes]
rs73491542	0.85[AFR][1000 genomes]
rs73491556	0.85[AFR][1000 genomes]
rs73491570	0.85[AFR][1000 genomes]
rs73491576	0.85[AFR][1000 genomes]
rs73502435	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
2	chr7:140218200-140241400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:140219200-140240800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:140219600-140240800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:140223400-140241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:140223600-140240800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:140226000-140241000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:140226000-140241400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:140226000-140244000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:140226000-140244000	Weak transcription	Pancreas	Pancrea
11	chr7:140226200-140241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:140226200-140262800	Weak transcription	Gastric	stomach
13	chr7:140226600-140240200	Weak transcription	Right Ventricle	heart
14	chr7:140226600-140241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:140226600-140241400	Weak transcription	Fetal Intestine Large	intestine
16	chr7:140226800-140240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:140227400-140241000	Weak transcription	Right Atrium	heart
18	chr7:140227600-140240800	Weak transcription	NH-A	brain
19	chr7:140227600-140243800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:140228200-140244000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:140229800-140241000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:140230400-140240800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:140230600-140240000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:140232200-140240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:140233000-140240800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:140233600-140240000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:140233600-140241000	Weak transcription	Left Ventricle	heart
28	chr7:140234600-140241800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:140235000-140239600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:140235000-140244200	Weak transcription	Brain Angular Gyrus	brain
31	chr7:140235200-140240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:140235200-140241000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:140235200-140241000	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:140235200-140241000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:140235200-140241800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:140235200-140241800	Weak transcription	Spleen	Spleen
37	chr7:140235400-140240800	Weak transcription	Ovary	ovary
38	chr7:140236200-140241200	Weak transcription	Esophagus	oesophagus
39	chr7:140236400-140240400	Strong transcription	Brain Germinal Matrix	brain
40	chr7:140236800-140240400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:140237000-140239600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:140237000-140240600	Strong transcription	NHDF-Ad	bronchial
43	chr7:140237600-140241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:140237600-140243000	Genic enhancers	Fetal Stomach	stomach
45	chr7:140237800-140239600	Weak transcription	NHLF	lung
46	chr7:140237800-140240400	Strong transcription	Adipose Nuclei	Adipose
47	chr7:140237800-140240800	Weak transcription	NHEK	skin
48	chr7:140238000-140241400	Strong transcription	Fetal Brain Female	brain
49	chr7:140238200-140239600	Weak transcription	Lung	lung
50	chr7:140238200-140241000	Weak transcription	Rectal Smooth Muscle	rectum

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