Variant report

Variant	rs11078347
Chromosome Location	chr17:16384961-16384962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16384267..16387135-chr17:16393066..16395846,2	K562	blood:
2	chr17:16373881..16376567-chr17:16384213..16385977,2	MCF-7	breast:
3	chr17:16380912..16382469-chr17:16382575..16385405,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181350	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11078348	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11868774	0.98[ASN][1000 genomes]
rs12603234	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16959744	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2109085	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159339	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2159340	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60635403	0.82[ASN][1000 genomes]

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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv1063941	chr17:16357086-16424098	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16373000-16388800	Weak transcription	Gastric	stomach
2	chr17:16373400-16386000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:16374200-16387800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:16374400-16387800	Weak transcription	Brain Germinal Matrix	brain
5	chr17:16374600-16387800	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:16374800-16386000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:16374800-16387800	Weak transcription	Brain Anterior Caudate	brain
8	chr17:16375000-16386200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:16375200-16390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:16376800-16387600	Weak transcription	Fetal Lung	lung
11	chr17:16377000-16389000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:16377200-16387600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:16378000-16386400	Weak transcription	Fetal Brain Female	brain
14	chr17:16381000-16385000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:16381000-16387400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:16381000-16390000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:16381200-16389200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:16381200-16392600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:16381400-16385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:16381400-16387000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:16381400-16387800	Weak transcription	Ovary	ovary
22	chr17:16381400-16388000	Weak transcription	Right Ventricle	heart
23	chr17:16381400-16389200	Weak transcription	Hela-S3	cervix
24	chr17:16381400-16389600	Weak transcription	A549	lung
25	chr17:16381600-16387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:16382200-16387800	Weak transcription	Small Intestine	intestine
27	chr17:16382400-16387800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:16382600-16387800	Weak transcription	Colon Smooth Muscle	Colon
29	chr17:16382800-16386200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr17:16383000-16385200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:16383000-16385800	Strong transcription	Fetal Intestine Small	intestine
32	chr17:16383000-16387800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr17:16383000-16387800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:16383000-16387800	Weak transcription	NHDF-Ad	bronchial
35	chr17:16383200-16386200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:16383400-16386000	Strong transcription	Fetal Intestine Large	intestine
37	chr17:16384000-16386800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr17:16384200-16385000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr17:16384200-16385200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:16384200-16387600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr17:16384200-16387800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:16384400-16385000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:16384400-16385000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:16384400-16385000	Enhancers	Pancreas	Pancrea
45	chr17:16384400-16385200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr17:16384400-16385400	Strong transcription	Fetal Stomach	stomach
47	chr17:16384400-16386800	Strong transcription	Colonic Mucosa	Colon
48	chr17:16384400-16386800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr17:16384400-16387000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr17:16384600-16385000	Enhancers	H9 Cell Line	embryonic stem cell

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