Variant report

Variant	rs34998443
Chromosome Location	chr7:83826339-83826340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:83826286-83826368	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SEMA3A	TF binding region

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

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

rs_ID	r²[population]
rs10229639	0.98[EUR][1000 genomes]
rs11971977	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11976214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11976275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12707623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12707624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12707625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12707626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12707627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13224698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13230138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13231088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13231114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13231702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13234305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13242741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1557936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28464975	0.98[EUR][1000 genomes]
rs34054916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34183115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34231292	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34406409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34445481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34446199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34586908	0.98[EUR][1000 genomes]
rs34753507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34798940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34843693	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35088033	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35157722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35192141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35241002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35276675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35473465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35732081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35743946	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35815557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35912238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35929386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35947091	0.98[EUR][1000 genomes]
rs36005262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36075153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71522694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71558711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71558712	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71558713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71558715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71558716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71558719	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7784725	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7811968	0.98[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83825200-83830200	Weak transcription	Hela-S3	cervix
2	chr7:83825400-83836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83825800-83828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83825800-83829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83825800-83829200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:83825800-83834200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:83825800-83836400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:83825800-83841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:83826000-83826400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:83826000-83826400	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:83826000-83826800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:83826000-83828000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:83826000-83829000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:83826000-83829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83826000-83829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:83826000-83830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:83826000-83830200	Weak transcription	NH-A	brain
18	chr7:83826000-83833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:83826000-83834200	Weak transcription	Fetal Brain Male	brain
20	chr7:83826200-83826400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:83826200-83826400	Enhancers	Stomach Smooth Muscle	stomach
22	chr7:83826200-83826600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:83826200-83826600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:83826200-83827000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:83826200-83828000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:83826200-83828000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:83826200-83828400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:83826200-83828800	Weak transcription	A549	lung
29	chr7:83826200-83829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:83826200-83829800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:83826200-83830400	Weak transcription	NHDF-Ad	bronchial
32	chr7:83826200-83830400	Weak transcription	NHLF	lung

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