Variant report

Variant	rs12670930
Chromosome Location	chr7:22382843-22382844
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	chr7:22381601..22384210-chr7:22384293..22386139,2	K562	blood:
2	chr7:22381601..22384539-chr7:22384625..22386139,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12668119	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4722129	0.92[AFR][1000 genomes]
rs56392704	0.81[AFR][1000 genomes]
rs73683358	0.94[AFR][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	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
2	esv1792359	chr7:22377636-22391198	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22369400-22394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:22370000-22383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:22370000-22384000	Weak transcription	Spleen	Spleen
4	chr7:22370200-22390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:22370800-22384000	Weak transcription	Left Ventricle	heart
6	chr7:22372200-22383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:22372600-22384400	Weak transcription	NHEK	skin
8	chr7:22373400-22384400	Weak transcription	Thymus	Thymus
9	chr7:22373800-22383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:22377200-22386600	Enhancers	Liver	Liver
11	chr7:22379000-22384800	Weak transcription	K562	blood
12	chr7:22380000-22392200	Weak transcription	Primary B cells from cord blood	blood
13	chr7:22380600-22383200	Enhancers	HepG2	liver
14	chr7:22380600-22384800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:22380600-22385600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:22380600-22385800	Weak transcription	Brain Angular Gyrus	brain
17	chr7:22381200-22383000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:22381600-22387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:22381800-22384800	Weak transcription	Stomach Mucosa	stomach
20	chr7:22381800-22385600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:22381800-22390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:22382000-22383200	Weak transcription	Pancreas	Pancrea
23	chr7:22382000-22383600	Weak transcription	Fetal Intestine Small	intestine
24	chr7:22382000-22383800	Weak transcription	Esophagus	oesophagus
25	chr7:22382000-22384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:22382000-22384400	Weak transcription	Fetal Intestine Large	intestine
27	chr7:22382000-22385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:22382000-22388200	Weak transcription	Lung	lung
29	chr7:22382000-22390000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:22382000-22390200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:22382000-22390200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:22382200-22383000	Weak transcription	Fetal Thymus	thymus
33	chr7:22382800-22383000	Genic enhancers	Dnd41	blood
34	chr7:22382800-22389400	Weak transcription	H9 Cell Line	embryonic stem cell

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