Variant report

Variant	rs34028112
Chromosome Location	chr16:71676188-71676189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71668579..71670328-chr16:71676094..71677931,2	MCF-7	breast:
2	chr16:71658239..71660520-chr16:71674184..71677101,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140832	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10500560	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1056303	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11640830	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11648483	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445161	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12446005	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12448022	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12924631	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1345868	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34358623	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34680964	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34731378	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61733127	0.97[ASN][1000 genomes]
rs61753635	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71403864	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7185575	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190257	0.85[ASN][1000 genomes]
rs7192860	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7205340	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8046629	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8049163	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8053623	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv2597921	chr16:71674837-71677996	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv2116823	chr16:71675480-71677643	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv3333314	chr16:71676112-71676355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71661800-71682000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:71662600-71682000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:71663200-71676800	Weak transcription	Fetal Kidney	kidney
4	chr16:71663400-71678400	Weak transcription	Fetal Lung	lung
5	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
6	chr16:71663800-71680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71663800-71681400	Weak transcription	Left Ventricle	heart
8	chr16:71663800-71681400	Weak transcription	HepG2	liver
9	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:71665200-71682800	Weak transcription	HMEC	breast
11	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:71668200-71681800	Weak transcription	Spleen	Spleen
13	chr16:71668600-71678200	Weak transcription	Primary T cells from cord blood	blood
14	chr16:71669600-71681400	Weak transcription	Brain Angular Gyrus	brain
15	chr16:71669600-71681600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:71670000-71678000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:71670000-71678200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:71670000-71679200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:71670000-71682600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:71670200-71682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:71670400-71681400	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:71670600-71678400	Strong transcription	Fetal Intestine Small	intestine
23	chr16:71670800-71681800	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:71671200-71676800	Weak transcription	Right Atrium	heart
25	chr16:71671200-71683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:71671400-71678400	Weak transcription	Dnd41	blood
27	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
28	chr16:71671800-71682200	Weak transcription	Right Ventricle	heart
29	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
30	chr16:71672000-71678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:71672000-71678400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:71672000-71679000	Weak transcription	HSMM	muscle
33	chr16:71672000-71681200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:71672000-71681400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:71672000-71681600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:71672000-71682600	Weak transcription	NHLF	lung
37	chr16:71672000-71682800	Weak transcription	NH-A	brain
38	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr16:71672200-71676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:71672200-71676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:71672200-71676800	Weak transcription	HSMMtube	muscle
42	chr16:71672200-71676800	Weak transcription	Osteobl	bone
43	chr16:71672200-71678200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:71672200-71678800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:71672200-71681200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:71672200-71681400	Weak transcription	NHDF-Ad	bronchial
47	chr16:71672200-71681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:71672200-71682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:71672200-71682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:71672400-71676600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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