Variant report

Variant	rs7197104
Chromosome Location	chr16:71794061-71794062
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	chr16:71792577..71794560-chr16:71799391..71801593,2	MCF-7	breast:
2	chr16:71793829..71795546-chr16:71803779..71806490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10500560	0.81[EUR][1000 genomes]
rs1056303	0.80[EUR][1000 genomes]
rs11075903	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640830	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11641113	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[ASN][1000 genomes]
rs11645704	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645725	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11648483	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11861296	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149460	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445161	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12447094	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448022	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12919271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924631	0.80[EUR][1000 genomes]
rs12928939	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12933007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935106	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345868	0.80[EUR][1000 genomes]
rs34053338	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358623	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34531032	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34680964	0.80[EUR][1000 genomes]
rs34731378	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34998650	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs61753635	0.80[EUR][1000 genomes]
rs71386932	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71403864	0.80[EUR][1000 genomes]
rs7202840	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049163	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051878	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a
5	esv1815957	chr16:71790812-71816899	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71763200-71799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:71763400-71802200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:71763600-71800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:71763600-71801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:71763800-71799600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:71763800-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:71764000-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:71764800-71802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:71770600-71796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:71770600-71798600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:71770600-71799600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr16:71770800-71795800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:71770800-71799600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:71770800-71813800	Strong transcription	Liver	Liver
21	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
22	chr16:71777200-71799800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:71780000-71821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:71783800-71820600	Weak transcription	Psoas Muscle	Psoas
26	chr16:71784000-71811200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:71785400-71799800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:71785400-71808800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr16:71786400-71799800	Strong transcription	Adipose Nuclei	Adipose
30	chr16:71786400-71802200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr16:71786400-71805200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr16:71786600-71809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:71786800-71797200	Strong transcription	Primary T cells from cord blood	blood
34	chr16:71786800-71797600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:71787000-71795000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:71787000-71796000	Strong transcription	Osteobl	bone
37	chr16:71787000-71797400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:71787000-71799800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:71787000-71802200	Strong transcription	Fetal Thymus	thymus
40	chr16:71787200-71794600	Strong transcription	Left Ventricle	heart
41	chr16:71787200-71794600	Strong transcription	Lung	lung
42	chr16:71787200-71794600	Strong transcription	Ovary	ovary
43	chr16:71787200-71794800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:71787200-71795000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr16:71787200-71795200	Strong transcription	Brain Anterior Caudate	brain
46	chr16:71787200-71795800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:71787200-71796000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:71787200-71796200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:71787200-71797200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr16:71787200-71797200	Strong transcription	Fetal Muscle Leg	muscle

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