Variant report

Variant	rs13243696
Chromosome Location	chr7:83740030-83740031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4732541	1.00[YRI][hapmap]
rs6970168	1.00[YRI][hapmap]

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83734800-83741800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:83735200-83742200	Weak transcription	Fetal Stomach	stomach
4	chr7:83735400-83741800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:83735600-83740800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:83735600-83742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:83735600-83742200	Weak transcription	NHLF	lung
8	chr7:83735600-83742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:83735600-83742800	Weak transcription	Fetal Kidney	kidney
10	chr7:83735600-83746600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:83735800-83742400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:83736400-83744200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:83736800-83743000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:83737000-83741400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83737000-83742200	Weak transcription	Psoas Muscle	Psoas
16	chr7:83737600-83741200	Weak transcription	Adipose Nuclei	Adipose
17	chr7:83737800-83740600	Weak transcription	Fetal Lung	lung
18	chr7:83738000-83740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:83738200-83741200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:83738200-83746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:83739000-83740200	Strong transcription	NHDF-Ad	bronchial
22	chr7:83739000-83743400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:83739200-83743000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:83739200-83743000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:83739400-83740200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:83739400-83741400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:83739400-83744600	Enhancers	Fetal Heart	heart
28	chr7:83739600-83740800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:83739600-83741400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:83739600-83741400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:83739800-83742400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:83739800-83743400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:83740000-83742200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:83740000-83742200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:83740000-83742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:83740000-83742200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:83740000-83742400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:83740000-83742400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:83740000-83743000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:83740000-83743600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:83740000-83744600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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