Variant report

Variant	rs9673512
Chromosome Location	chr16:70732282-70732283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70731211..70733556-chr16:70795711..70798621,2	MCF-7	breast:
2	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
3	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
4	chr16:70730415..70732560-chr16:70741033..70742955,2	K562	blood:
5	chr16:70729813..70732672-chr16:70787716..70789495,2	MCF-7	breast:
6	chr16:70731044..70733238-chr16:70775632..70778039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000214353	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10153136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16970437	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17307409	1.00[CHB][hapmap]
rs3785425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985561	0.98[ASN][1000 genomes]
rs59812853	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59984573	0.85[ASN][1000 genomes]
rs936302	1.00[JPT][hapmap]
rs9939763	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
3	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
4	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
5	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
6	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
7	chr16:70724200-70732800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr16:70725400-70732600	Enhancers	Colon Smooth Muscle	Colon
9	chr16:70726600-70733400	Enhancers	HMEC	breast
10	chr16:70726800-70733600	Enhancers	NHEK	skin
11	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
12	chr16:70727200-70733600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr16:70727400-70732600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:70728200-70732600	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:70728200-70735600	Weak transcription	Ovary	ovary
16	chr16:70728800-70732800	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr16:70728800-70738600	Enhancers	Fetal Heart	heart
18	chr16:70729000-70732400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr16:70729600-70732400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70729600-70734200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:70729600-70736000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:70729800-70736200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:70729800-70736800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:70729800-70737000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:70729800-70737200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:70730000-70733200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr16:70730000-70734200	Weak transcription	Psoas Muscle	Psoas
28	chr16:70730000-70737000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:70730000-70737000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:70730200-70732400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr16:70730200-70734200	Weak transcription	Liver	Liver
32	chr16:70730200-70737000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:70730200-70737000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:70730400-70733600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr16:70730600-70732400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:70730600-70732400	Enhancers	Brain Angular Gyrus	brain
37	chr16:70730600-70737800	Weak transcription	Hela-S3	cervix
38	chr16:70730600-70738800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:70730800-70732400	Enhancers	Right Atrium	heart
40	chr16:70731000-70732400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:70731000-70734000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:70731200-70732800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:70731200-70732800	Genic enhancers	Brain Anterior Caudate	brain
44	chr16:70731200-70737000	Weak transcription	K562	blood
45	chr16:70731400-70732400	Genic enhancers	Brain Germinal Matrix	brain
46	chr16:70731400-70732800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:70731400-70733200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:70731400-70733400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:70731400-70734800	Weak transcription	Aorta	Aorta
50	chr16:70731400-70736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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