Variant report

Variant	rs12700358
Chromosome Location	chr7:22249103-22249104
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22240872..22243800-chr7:22248891..22250642,2	MCF-7	breast:
2	chr7:22247507..22249732-chr7:22251326..22252864,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10248283	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10278086	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10807810	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13310201	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1476686	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719688	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6957379	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7780366	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801397	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs951589	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9639424	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22225400-22253600	Weak transcription	Stomach Mucosa	stomach
2	chr7:22233400-22259200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:22233600-22253600	Weak transcription	Esophagus	oesophagus
4	chr7:22233600-22257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:22235600-22253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:22235600-22260600	Weak transcription	GM12878-XiMat	blood
7	chr7:22236400-22249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:22238000-22264600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:22238800-22253600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:22239600-22251000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:22241000-22267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:22243400-22255800	Weak transcription	Liver	Liver
13	chr7:22243400-22307200	Weak transcription	Thymus	Thymus
14	chr7:22243600-22251400	Weak transcription	Lung	lung
15	chr7:22243600-22256600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:22243600-22258400	Weak transcription	Fetal Intestine Small	intestine
17	chr7:22244200-22251200	Weak transcription	Pancreas	Pancrea
18	chr7:22244200-22258000	Weak transcription	Fetal Intestine Large	intestine
19	chr7:22244200-22258400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:22244200-22258600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:22244600-22258000	Weak transcription	Primary B cells from cord blood	blood
22	chr7:22244600-22259800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:22244800-22256800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:22245800-22250400	Weak transcription	Fetal Lung	lung
25	chr7:22245800-22252600	Weak transcription	Fetal Kidney	kidney
26	chr7:22247000-22251400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:22247000-22251400	Enhancers	NHEK	skin
28	chr7:22247400-22251000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:22247400-22251200	Enhancers	Brain Hippocampus Middle	brain
30	chr7:22247400-22251200	Enhancers	HMEC	breast
31	chr7:22247600-22249200	Enhancers	Brain Substantia Nigra	brain
32	chr7:22247600-22249400	Enhancers	Psoas Muscle	Psoas
33	chr7:22247600-22250200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:22247600-22250800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:22247600-22256400	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:22247800-22256400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:22247800-22258000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:22248000-22253000	Strong transcription	Dnd41	blood
39	chr7:22248200-22249400	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:22248200-22250000	Weak transcription	Right Atrium	heart
41	chr7:22248200-22250000	Weak transcription	HUVEC	blood vessel
42	chr7:22248200-22255400	Weak transcription	Right Ventricle	heart
43	chr7:22248400-22250000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:22248400-22250000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:22248600-22249200	Weak transcription	Spleen	Spleen
46	chr7:22248600-22250400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:22248600-22251200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:22248600-22251200	Weak transcription	Left Ventricle	heart
49	chr7:22248600-22252400	Strong transcription	Fetal Thymus	thymus
50	chr7:22248800-22249200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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