Variant report

Variant	rs6502509
Chromosome Location	chr17:16438938-16438939
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16438778..16440938-chr17:16486028..16489124,4	MCF-7	breast:
2	chr17:16438812..16439694-chr19:18433780..18434544,2	Hela-S3	cervix:
3	chr17:16341017..16345160-chr17:16437605..16439937,3	MCF-7	breast:
4	chr17:16340917..16342504-chr17:16437747..16440086,2	MCF-7	breast:
5	chr17:16438879..16441791-chr17:16451623..16453677,2	MCF-7	breast:
6	chr17:16429098..16431180-chr17:16437173..16439127,3	MCF-7	breast:
7	chr17:16340737..16343623-chr17:16437473..16440346,2	K562	blood:
8	chr17:16435174..16436917-chr17:16438629..16440223,2	MCF-7	breast:
9	chr17:16430425..16433111-chr17:16438692..16440264,2	MCF-7	breast:
10	chr17:16437317..16439294-chr17:16465015..16467273,2	K562	blood:
11	chr17:16437964..16442048-chr17:16550999..16555622,7	MCF-7	breast:
12	chr17:16438011..16440240-chr17:16486101..16487896,2	MCF-7	breast:
13	chr17:16438616..16440825-chr17:16443136..16445792,4	MCF-7	breast:
14	chr17:16438769..16439349-chr6:157007901..157008556,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000266651	Chromatin interaction
ENSG00000141040	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000175061	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10491106	0.83[ASW][hapmap];0.81[GIH][hapmap]
rs16959797	1.00[CEU][hapmap]
rs16959820	0.81[EUR][1000 genomes]
rs16959821	0.97[EUR][1000 genomes]
rs16959828	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs16959832	1.00[ASW][hapmap]
rs16959834	0.91[ASW][hapmap]
rs17716132	1.00[CEU][hapmap];0.87[TSI][hapmap];0.97[EUR][1000 genomes]
rs17778652	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2006260	0.89[EUR][1000 genomes]
rs57442832	0.86[EUR][1000 genomes]
rs59856977	0.86[EUR][1000 genomes]
rs7211497	1.00[ASW][hapmap]
rs7221221	0.83[ASW][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes]
rs7221367	0.87[YRI][hapmap];0.88[AMR][1000 genomes]
rs7222543	0.97[EUR][1000 genomes]
rs7224723	0.81[GIH][hapmap]
rs73282641	0.84[EUR][1000 genomes]
rs9889728	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9904631	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16438200-16440200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:16438200-16440400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:16438200-16440400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr17:16438200-16440400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:16438400-16439000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:16438400-16439000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr17:16438400-16439600	Active TSS	HSMM	muscle
8	chr17:16438400-16439800	Active TSS	Brain Germinal Matrix	brain
9	chr17:16438400-16439800	Active TSS	HSMMtube	muscle
10	chr17:16438400-16440000	Active TSS	NHLF	lung
11	chr17:16438400-16440200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr17:16438400-16440200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:16438400-16440200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:16438400-16440200	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr17:16438400-16440200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:16438400-16440200	Active TSS	Brain Substantia Nigra	brain
17	chr17:16438400-16440200	Active TSS	Fetal Brain Female	brain
18	chr17:16438400-16440200	Active TSS	Right Atrium	heart
19	chr17:16438400-16440400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr17:16438400-16440400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:16438400-16440400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr17:16438400-16440400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr17:16438400-16440400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:16438400-16440400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:16438400-16440400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:16438400-16440400	Active TSS	Brain Angular Gyrus	brain
27	chr17:16438400-16440400	Active TSS	Brain Hippocampus Middle	brain
28	chr17:16438400-16440400	Active TSS	Colonic Mucosa	Colon
29	chr17:16438400-16440400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr17:16438400-16440400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr17:16438400-16440400	Active TSS	Psoas Muscle	Psoas
32	chr17:16438400-16440400	Active TSS	HMEC	breast
33	chr17:16438400-16440600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr17:16438400-16440600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:16438600-16439000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr17:16438600-16439000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr17:16438600-16439000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr17:16438600-16439000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr17:16438600-16439000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:16438600-16439000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr17:16438600-16439000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr17:16438600-16439000	Flanking Active TSS	HUVEC	blood vessel
43	chr17:16438600-16439000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr17:16438600-16439400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr17:16438600-16439400	Active TSS	Fetal Thymus	thymus
46	chr17:16438600-16439600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:16438600-16439600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:16438600-16439600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:16438600-16439600	Active TSS	Fetal Muscle Leg	muscle
50	chr17:16438600-16439600	Active TSS	Fetal Stomach	stomach

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