Variant report

Variant	rs12113490
Chromosome Location	chr7:83773310-83773311
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	chr7:83771843..83774813-chr7:83782378..83785250,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs73376900	1.00[AMR][1000 genomes]
rs73378827	1.00[AMR][1000 genomes]
rs73378832	1.00[AMR][1000 genomes]
rs73378899	1.00[AMR][1000 genomes]
rs73380817	1.00[AMR][1000 genomes]
rs73382860	1.00[AMR][1000 genomes]
rs73382867	1.00[AMR][1000 genomes]
rs73384812	1.00[AMR][1000 genomes]
rs73384814	1.00[AMR][1000 genomes]
rs73384886	1.00[AMR][1000 genomes]
rs73384901	1.00[AMR][1000 genomes]
rs7780589	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:83768800-83774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:83769000-83774000	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:83769600-83774000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:83769800-83775200	Weak transcription	Fetal Lung	lung
10	chr7:83769800-83775200	Weak transcription	NHLF	lung
11	chr7:83769800-83775400	Weak transcription	Fetal Stomach	stomach
12	chr7:83770000-83774000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:83770600-83774000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
15	chr7:83771000-83774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:83771400-83774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:83771800-83773800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:83771800-83773800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:83771800-83773800	Weak transcription	HUVEC	blood vessel
20	chr7:83771800-83777800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:83772000-83773800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:83772000-83776200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:83772000-83777200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:83772200-83773600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:83772200-83773800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:83772400-83774200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:83772600-83773800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:83772600-83775400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:83772800-83775600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:83773000-83774600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:83773000-83779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:83773200-83773400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:83773200-83773800	Enhancers	A549	lung
34	chr7:83773200-83774000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:83773200-83774000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:83773200-83774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:83773200-83779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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