Variant report

Variant	rs35122483
Chromosome Location	chr8:50969708-50969709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1000638	1.00[EUR][1000 genomes]
rs1000639	1.00[EUR][1000 genomes]
rs10096871	0.95[EUR][1000 genomes]
rs10504094	0.99[EUR][1000 genomes]
rs10504096	0.90[EUR][1000 genomes]
rs10957764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957802	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12545107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12545263	0.89[EUR][1000 genomes]
rs13251700	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13270234	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13271983	0.99[EUR][1000 genomes]
rs13280089	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17686196	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1903311	0.91[EUR][1000 genomes]
rs2106156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047312	0.90[EUR][1000 genomes]
rs34641787	0.91[EUR][1000 genomes]
rs34908792	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35093761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35418717	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35989044	1.00[EUR][1000 genomes]
rs4873405	0.93[EUR][1000 genomes]
rs4873406	0.92[EUR][1000 genomes]
rs4873407	0.90[EUR][1000 genomes]
rs56413317	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62516686	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6472947	0.91[EUR][1000 genomes]
rs6996646	0.98[EUR][1000 genomes]
rs7013995	0.91[EUR][1000 genomes]
rs721441	0.95[EUR][1000 genomes]
rs7820951	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv611312	chr8:50930075-51011122	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890871	chr8:50936174-51040022	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv890872	chr8:50946702-51032813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50952800-50969800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:50967200-50970200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:50967400-50969800	Enhancers	NH-A	brain
4	chr8:50967400-50970400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:50967400-50970400	Enhancers	HSMM	muscle
6	chr8:50967400-50970800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:50967400-50971000	Enhancers	NHDF-Ad	bronchial
8	chr8:50967400-50971200	Enhancers	HMEC	breast
9	chr8:50967400-50971600	Enhancers	NHLF	lung
10	chr8:50967600-50970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:50967600-50970400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:50968000-50970000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:50968000-50970000	Enhancers	Fetal Stomach	stomach
14	chr8:50968000-50970400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:50968000-50970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:50968000-50971600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:50968400-50970200	Enhancers	HSMMtube	muscle
18	chr8:50968400-50970600	Enhancers	Rectal Smooth Muscle	rectum
19	chr8:50968600-50969800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:50968600-50970000	Flanking Active TSS	Hela-S3	cervix
21	chr8:50968600-50970200	Enhancers	Dnd41	blood
22	chr8:50968800-50969800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:50968800-50970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:50968800-50970000	Enhancers	Colon Smooth Muscle	Colon
25	chr8:50968800-50970200	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:50968800-50970200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:50968800-50970400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:50969000-50969800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:50969000-50970000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:50969000-50970000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:50969000-50970400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:50969200-50970000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:50969200-50971200	Enhancers	HUVEC	blood vessel
34	chr8:50969400-50969800	Enhancers	Osteobl	bone
35	chr8:50969600-50969800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:50969600-50969800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:50969600-50969800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:50969600-50970000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:50969600-50971600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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