Variant report

Variant	rs9939763
Chromosome Location	chr16:70771522-70771523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70770493..70773338-chr16:70791778..70794267,2	MCF-7	breast:
2	chr16:70716873..70722425-chr16:70770832..70776787,8	MCF-7	breast:
3	chr16:70763729..70766674-chr16:70767583..70772048,4	K562	blood:
4	chr16:70728571..70732592-chr16:70769658..70771952,3	MCF-7	breast:
5	chr16:70713079..70721608-chr16:70767367..70776352,14	MCF-7	breast:
6	chr16:70739967..70742335-chr16:70770927..70772720,2	MCF-7	breast:
7	chr16:70769869..70777910-chr16:70778144..70784375,13	MCF-7	breast:
8	chr16:70723003..70726342-chr16:70770518..70773354,4	K562	blood:
9	chr16:70690657..70692376-chr16:70770726..70773209,2	MCF-7	breast:
10	chr16:70769195..70771802-chr16:70778228..70780922,2	K562	blood:
11	chr16:70748975..70750633-chr16:70770017..70771781,2	MCF-7	breast:
12	chr16:70708118..70709797-chr16:70771075..70773341,2	MCF-7	breast:
13	chr16:70747047..70751292-chr16:70770500..70773277,5	MCF-7	breast:
14	chr16:70753099..70755239-chr16:70768073..70771716,3	MCF-7	breast:
15	chr16:70714806..70720740-chr16:70769240..70775659,10	K562	blood:
16	chr16:70751340..70753059-chr16:70768605..70771567,2	MCF-7	breast:
17	chr16:70760849..70763441-chr16:70769230..70771713,2	MCF-7	breast:
18	chr16:70745639..70748512-chr16:70770742..70772516,3	MCF-7	breast:
19	chr16:70767547..70769820-chr16:70770075..70772238,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000132613	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12149236	0.91[ASN][1000 genomes]
rs17307409	1.00[JPT][hapmap]
rs2290614	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2902830	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3743988	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3785421	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985423	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4985556	1.00[CHB][hapmap]
rs60028268	0.97[ASN][1000 genomes]
rs6499335	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7185187	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190561	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7203578	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7205738	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9673512	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	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
8	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
9	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70750800-70771800	Weak transcription	A549	lung
2	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
4	chr16:70755600-70774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:70755800-70772000	Weak transcription	Small Intestine	intestine
6	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:70761200-70777600	Weak transcription	K562	blood
8	chr16:70762200-70778200	Weak transcription	Ovary	ovary
9	chr16:70762400-70779600	Weak transcription	Aorta	Aorta
10	chr16:70762600-70774600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:70763400-70773000	Weak transcription	Fetal Brain Female	brain
12	chr16:70765400-70771600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:70765400-70773200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:70765600-70771800	Weak transcription	Dnd41	blood
15	chr16:70765600-70772200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:70767600-70774600	Enhancers	Fetal Muscle Leg	muscle
17	chr16:70768400-70771800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:70768600-70771800	Enhancers	HSMM	muscle
19	chr16:70768600-70772400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:70768600-70776200	Enhancers	NHDF-Ad	bronchial
21	chr16:70768800-70771800	Enhancers	Rectal Smooth Muscle	rectum
22	chr16:70768800-70771800	Enhancers	NHLF	lung
23	chr16:70768800-70772200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:70768800-70772200	Enhancers	Psoas Muscle	Psoas
25	chr16:70768800-70772800	Enhancers	Adipose Nuclei	Adipose
26	chr16:70768800-70772800	Enhancers	Fetal Muscle Trunk	muscle
27	chr16:70768800-70773200	Enhancers	Placenta	Placenta
28	chr16:70768800-70773600	Enhancers	Right Ventricle	heart
29	chr16:70768800-70774800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:70768800-70774800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr16:70768800-70776400	Genic enhancers	Fetal Stomach	stomach
32	chr16:70769000-70771800	Enhancers	Colon Smooth Muscle	Colon
33	chr16:70769000-70771800	Enhancers	Fetal Thymus	thymus
34	chr16:70769000-70772600	Enhancers	Colonic Mucosa	Colon
35	chr16:70769200-70771600	Enhancers	Thymus	Thymus
36	chr16:70769200-70772400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:70769200-70772800	Enhancers	Lung	lung
38	chr16:70769200-70773200	Enhancers	Fetal Lung	lung
39	chr16:70769200-70776000	Enhancers	Fetal Heart	heart
40	chr16:70769400-70771600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:70769400-70771800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr16:70769400-70771800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr16:70769400-70772000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr16:70769400-70772000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr16:70769400-70773000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr16:70769600-70772200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:70769600-70773000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr16:70769800-70771800	Enhancers	Primary T cells from cord blood	blood
49	chr16:70769800-70771800	Enhancers	HSMMtube	muscle
50	chr16:70769800-70772400	Enhancers	Right Atrium	heart

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