Variant report

Variant	rs13247197
Chromosome Location	chr7:83820567-83820568
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12113887	0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707625	1.00[CEU][hapmap]
rs12707629	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707631	0.80[EUR][1000 genomes]
rs13231596	0.80[EUR][1000 genomes]
rs13234176	0.80[EUR][1000 genomes]
rs17242890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34657298	0.94[AFR][1000 genomes]
rs35486665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806139	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35921556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71558714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
5	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:83816200-83820600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:83816200-83821000	Enhancers	A549	lung
9	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:83817000-83820600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:83817600-83820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:83817600-83820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:83817600-83821200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:83817600-83821200	Weak transcription	Fetal Kidney	kidney
16	chr7:83817800-83820600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:83817800-83820600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:83817800-83820800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:83817800-83823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:83818000-83823200	Weak transcription	HUVEC	blood vessel
21	chr7:83818200-83821200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:83818200-83821200	Weak transcription	NHEK	skin
23	chr7:83818200-83821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:83818400-83820600	Weak transcription	Fetal Stomach	stomach
25	chr7:83818400-83821200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:83818400-83823600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:83818600-83820600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:83818600-83820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:83818600-83821000	Weak transcription	Fetal Heart	heart
30	chr7:83818600-83821200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:83818600-83821200	Weak transcription	Hela-S3	cervix
32	chr7:83818600-83821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:83818600-83823200	Weak transcription	Adipose Nuclei	Adipose
34	chr7:83818800-83820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:83818800-83821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:83819000-83820600	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:83819200-83821200	Enhancers	HMEC	breast
38	chr7:83819200-83821200	Enhancers	Osteobl	bone
39	chr7:83819400-83820600	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:83819400-83820600	Enhancers	NH-A	brain
41	chr7:83819400-83825800	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:83819400-83826000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:83819600-83820600	Enhancers	Fetal Brain Male	brain
44	chr7:83819600-83821400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:83819600-83824800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:83819600-83826000	Active TSS	NHLF	lung
47	chr7:83819800-83820600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:83819800-83820600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:83819800-83823200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:83820000-83820600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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