Variant report

Variant	rs34248730
Chromosome Location	chr1:95062530-95062531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10874864	0.83[EUR][1000 genomes]
rs10874865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1098724	0.96[ASN][1000 genomes]
rs1098726	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165162	0.82[EUR][1000 genomes]
rs11165163	0.82[EUR][1000 genomes]
rs11165165	0.84[EUR][1000 genomes]
rs11165169	0.83[EUR][1000 genomes]
rs11165174	0.84[EUR][1000 genomes]
rs11165176	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12028955	0.83[EUR][1000 genomes]
rs12120233	0.82[EUR][1000 genomes]
rs12354010	0.83[EUR][1000 genomes]
rs12402343	0.83[EUR][1000 genomes]
rs12406950	0.82[ASN][1000 genomes]
rs12408608	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12742434	0.83[EUR][1000 genomes]
rs12748337	0.82[EUR][1000 genomes]
rs17111860	0.83[EUR][1000 genomes]
rs1772895	0.94[ASN][1000 genomes]
rs2798940	0.96[ASN][1000 genomes]
rs34182043	0.83[EUR][1000 genomes]
rs7542900	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs841684	0.94[ASN][1000 genomes]
rs841685	0.98[ASN][1000 genomes]
rs841687	1.00[ASN][1000 genomes]
rs841688	1.00[ASN][1000 genomes]
rs841689	0.99[ASN][1000 genomes]
rs841690	0.98[ASN][1000 genomes]
rs841705	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs841708	0.96[ASN][1000 genomes]
rs866365	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1804937	chr1:95051930-95081587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95056200-95067800	Weak transcription	Gastric	stomach
3	chr1:95056800-95069000	Weak transcription	Right Atrium	heart
4	chr1:95057400-95069000	Weak transcription	Aorta	Aorta
5	chr1:95059200-95062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:95059400-95064600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:95059400-95074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:95060400-95063000	Weak transcription	Hela-S3	cervix
9	chr1:95060800-95063400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:95060800-95064400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:95060800-95065400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:95061400-95066000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:95061400-95076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:95061600-95063000	Weak transcription	NHEK	skin
15	chr1:95061600-95064400	Weak transcription	HMEC	breast
16	chr1:95061600-95064600	Weak transcription	Stomach Mucosa	stomach
17	chr1:95061600-95065000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:95061600-95067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:95061600-95068800	Weak transcription	NHLF	lung
20	chr1:95061600-95071600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:95061800-95064800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:95061800-95065400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:95062000-95063200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:95062000-95063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:95062000-95063600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:95062000-95066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:95062000-95072200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:95062400-95062600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:95062400-95063200	Weak transcription	Placenta	Placenta
30	chr1:95062400-95064800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:95062400-95070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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