Variant report

Variant	rs60635403
Chromosome Location	chr17:16388383-16388384
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16371050..16373790-chr17:16387962..16391461,3	MCF-7	breast:
2	chr17:16366570..16369549-chr17:16387763..16390396,2	MCF-7	breast:
3	chr17:16379752..16382103-chr17:16386990..16389784,2	MCF-7	breast:
4	chr17:16386326..16389299-chr17:16390889..16393298,2	K562	blood:
5	chr17:16345752..16348738-chr17:16386429..16389411,2	MCF-7	breast:
6	chr17:16387996..16389898-chr17:16398901..16401613,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11078347	0.82[ASN][1000 genomes]
rs11078348	0.90[ASN][1000 genomes]
rs11868774	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11871620	0.86[EUR][1000 genomes]
rs16959752	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8076901	0.86[EUR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16373000-16388800	Weak transcription	Gastric	stomach
2	chr17:16375200-16390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:16377000-16389000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:16381000-16390000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:16381200-16389200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:16381200-16392600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:16381400-16389200	Weak transcription	Hela-S3	cervix
8	chr17:16381400-16389600	Weak transcription	A549	lung
9	chr17:16384800-16389000	Weak transcription	Lung	lung
10	chr17:16385000-16389000	Weak transcription	Pancreas	Pancrea
11	chr17:16385800-16392200	Genic enhancers	Fetal Intestine Small	intestine
12	chr17:16386000-16389600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:16386200-16392600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:16386800-16389000	Weak transcription	Liver	Liver
15	chr17:16387400-16389200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr17:16387400-16390400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:16387600-16388400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr17:16387600-16388600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr17:16387600-16388800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr17:16387600-16389000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:16387600-16389400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:16387600-16390600	Flanking Active TSS	Fetal Brain Female	brain
23	chr17:16387600-16390800	Enhancers	Fetal Brain Male	brain
24	chr17:16387600-16392800	Enhancers	Fetal Lung	lung
25	chr17:16387600-16393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:16387600-16393000	Enhancers	Placenta	Placenta
27	chr17:16387800-16388400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:16387800-16388400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr17:16387800-16388400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:16387800-16388400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr17:16387800-16388400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:16387800-16388600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr17:16387800-16389200	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:16387800-16389200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr17:16387800-16389200	Enhancers	Stomach Smooth Muscle	stomach
36	chr17:16387800-16389200	Enhancers	HUVEC	blood vessel
37	chr17:16387800-16389400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:16387800-16389400	Enhancers	Brain Angular Gyrus	brain
39	chr17:16387800-16389400	Enhancers	Brain Germinal Matrix	brain
40	chr17:16387800-16389600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:16387800-16389600	Enhancers	HSMMtube	muscle
42	chr17:16387800-16390600	Enhancers	Brain Substantia Nigra	brain
43	chr17:16387800-16392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:16387800-16392600	Enhancers	Fetal Heart	heart
45	chr17:16387800-16393000	Enhancers	Ovary	ovary
46	chr17:16388000-16389000	Weak transcription	NH-A	brain
47	chr17:16388000-16389400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr17:16388000-16389400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr17:16388000-16390600	Enhancers	Fetal Stomach	stomach
50	chr17:16388200-16388400	Enhancers	HUES64 Cell Line	embryonic stem cell

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