Variant report

Variant	rs13234305
Chromosome Location	chr7:83823420-83823421
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10229639	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11971977	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11976275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12707623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12707624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12707625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12707626	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12707627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13224698	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13230138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13231088	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13231114	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13231702	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13242741	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1557936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464975	1.00[EUR][1000 genomes]
rs34054916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34183115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34231292	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34406409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34445481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34446199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34586908	1.00[EUR][1000 genomes]
rs34753507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34798940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34843693	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34998443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35088033	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35157722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35192141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35241002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35276675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35473465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35732081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35743946	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35815557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35912238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35929386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35947091	1.00[EUR][1000 genomes]
rs36005262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36075153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71522694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71558711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71558712	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71558713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71558715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71558716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71558719	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7784725	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7811968	1.00[CEU][hapmap];1.00[EUR][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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:83818400-83823600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:83819400-83825800	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:83819400-83826000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83819600-83824800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:83819600-83826000	Active TSS	NHLF	lung
9	chr7:83820000-83825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:83820600-83823800	Active TSS	Brain Anterior Caudate	brain
11	chr7:83820600-83824600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:83820600-83825600	Active TSS	Fetal Intestine Large	intestine
13	chr7:83820600-83825800	Active TSS	Fetal Stomach	stomach
14	chr7:83820600-83826000	Active TSS	Colon Smooth Muscle	Colon
15	chr7:83820600-83826000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:83820600-83826000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:83820800-83824600	Active TSS	Fetal Brain Female	brain
18	chr7:83820800-83825000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:83820800-83825600	Active TSS	Fetal Muscle Leg	muscle
20	chr7:83820800-83826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:83820800-83826000	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:83820800-83826200	Active TSS	NHDF-Ad	bronchial
23	chr7:83821000-83824600	Active TSS	NH-A	brain
24	chr7:83821000-83824800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:83821000-83825600	Active TSS	Brain Germinal Matrix	brain
26	chr7:83821000-83826000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:83821000-83826200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:83821200-83824600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:83821200-83826000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:83821400-83824600	Active TSS	HMEC	breast
31	chr7:83821400-83824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:83821400-83825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:83821400-83825800	Active TSS	Fetal Kidney	kidney
34	chr7:83821600-83823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:83821600-83824400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:83821600-83825800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:83821800-83824400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:83821800-83824600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:83821800-83824800	Active TSS	A549	lung
40	chr7:83821800-83825800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr7:83821800-83825800	Active TSS	Fetal Lung	lung
42	chr7:83822000-83824400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:83822000-83824600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:83822000-83824600	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:83822000-83824600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:83822000-83824800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:83822000-83824800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:83822200-83824800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:83822400-83824600	Active TSS	Fetal Heart	heart
50	chr7:83822400-83824600	Active TSS	Osteobl	bone

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