Variant report

Variant	rs1344167
Chromosome Location	chr16:12822039-12822040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12816095..12818356-chr16:12821426..12824308,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10852355	0.80[EUR][1000 genomes]
rs10852357	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11075149	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11075150	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11075153	0.91[CEU][hapmap]
rs11075154	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12443699	0.82[AMR][1000 genomes]
rs1346491	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2865613	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2865616	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2865630	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2865631	0.86[EUR][1000 genomes]
rs2865632	0.81[EUR][1000 genomes]
rs4486877	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4780473	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs6498354	0.85[JPT][hapmap]
rs7185373	0.95[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]
rs7190922	0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7194156	0.92[JPT][hapmap]
rs8048866	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs882908	0.83[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs9923473	0.84[EUR][1000 genomes]
rs9938529	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9972703	0.83[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr16:12758600-12822400	Weak transcription	HSMMtube	muscle
3	chr16:12797600-12823200	Weak transcription	Primary T cells from cord blood	blood
4	chr16:12798400-12825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:12798600-12822800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:12798600-12825800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:12798600-12836800	Weak transcription	Placenta	Placenta
8	chr16:12798800-12826600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:12799000-12823600	Weak transcription	Adipose Nuclei	Adipose
10	chr16:12799400-12823000	Weak transcription	Fetal Intestine Large	intestine
11	chr16:12803800-12822400	Weak transcription	Spleen	Spleen
12	chr16:12812600-12823200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:12813200-12826200	Strong transcription	HepG2	liver
14	chr16:12813400-12822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:12814000-12826200	Weak transcription	Brain Angular Gyrus	brain
16	chr16:12814200-12825600	Weak transcription	Liver	Liver
17	chr16:12814600-12825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:12816000-12822400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:12817800-12822400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:12817800-12822600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:12817800-12822800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:12817800-12827400	Weak transcription	Esophagus	oesophagus
23	chr16:12818200-12822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:12818400-12822400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:12818400-12822600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:12818400-12826200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:12818400-12834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:12818600-12822400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:12818600-12826200	Weak transcription	Aorta	Aorta
30	chr16:12818600-12826200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr16:12818800-12823200	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:12819000-12823800	Weak transcription	Lung	lung
33	chr16:12819800-12825600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:12820000-12823400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:12821400-12823800	Weak transcription	Gastric	stomach
36	chr16:12821600-12826200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr16:12822000-12822400	Weak transcription	HSMM	muscle
38	chr16:12822000-12825800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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