Variant report

Variant	rs62447101
Chromosome Location	chr7:22372025-22372026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22369000..22371197-chr7:22371330..22372832,2	K562	blood:
2	chr7:22366930..22368967-chr7:22370574..22372590,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10227259	0.85[EUR][1000 genomes]
rs10233668	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10238401	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10240399	0.96[AFR][1000 genomes]
rs10242605	0.85[EUR][1000 genomes]
rs10242851	0.85[EUR][1000 genomes]
rs10264609	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10268485	0.84[EUR][1000 genomes]
rs10276593	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12333620	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1568571	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1568572	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17146676	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28503868	0.82[EUR][1000 genomes]
rs28656461	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62447069	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62447095	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62447097	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62447098	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461643	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6968552	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7779510	0.85[EUR][1000 genomes]
rs7796489	0.84[EUR][1000 genomes]
rs7798671	0.85[EUR][1000 genomes]
rs7799625	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830923	chr7:22316841-22494973	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22342200-22373200	Weak transcription	Lung	lung
2	chr7:22360600-22372400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:22368000-22374000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:22368000-22374800	Enhancers	Fetal Intestine Large	intestine
5	chr7:22368200-22374600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:22368400-22372200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:22368400-22374000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:22369400-22374800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:22370000-22373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:22370000-22373400	Weak transcription	Gastric	stomach
12	chr7:22370000-22383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:22370000-22384000	Weak transcription	Spleen	Spleen
14	chr7:22370200-22373400	Weak transcription	Esophagus	oesophagus
15	chr7:22370200-22373600	Weak transcription	K562	blood
16	chr7:22370200-22374800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:22370200-22390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:22370400-22380200	Weak transcription	Brain Angular Gyrus	brain
19	chr7:22370600-22373400	Weak transcription	HepG2	liver
20	chr7:22370800-22372200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:22370800-22372400	Weak transcription	Colonic Mucosa	Colon
22	chr7:22370800-22373200	Weak transcription	Pancreas	Pancrea
23	chr7:22370800-22373400	Weak transcription	Dnd41	blood
24	chr7:22370800-22374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:22370800-22376400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:22370800-22377200	Weak transcription	Liver	Liver
27	chr7:22370800-22384000	Weak transcription	Left Ventricle	heart
28	chr7:22371200-22372200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:22371600-22372600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:22371600-22372600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:22371600-22372600	Enhancers	Fetal Intestine Small	intestine
32	chr7:22371800-22372200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:22371800-22372200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:22371800-22372400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:22371800-22372400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:22371800-22372400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:22371800-22372600	Enhancers	Thymus	Thymus
38	chr7:22371800-22372600	Enhancers	GM12878-XiMat	blood
39	chr7:22371800-22374800	Enhancers	Fetal Thymus	thymus
40	chr7:22372000-22372600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:22372000-22372600	Enhancers	Adipose Nuclei	Adipose
42	chr7:22372000-22372600	Enhancers	NHEK	skin
43	chr7:22372000-22373000	Enhancers	Fetal Kidney	kidney
44	chr7:22372000-22373600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr7:22372000-22373800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:22372000-22375400	Enhancers	Stomach Mucosa	stomach
47	chr7:22372000-22375600	Enhancers	Duodenum Mucosa	Duodenum

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