Variant report

Variant	rs4985760
Chromosome Location	chr17:17179299-17179300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17177648..17180936-chr17:17181197..17184729,6	MCF-7	breast:
2	chr17:17179045..17181973-chr17:17206782..17208341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205309	Chromatin interaction
ENSG00000141030	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12453455	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600589	0.92[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs12949822	0.81[ASN][1000 genomes]
rs1630656	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1708617	0.94[ASN][1000 genomes]
rs1708621	0.94[ASN][1000 genomes]
rs1708624	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1708625	0.84[EUR][1000 genomes]
rs1708628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1736204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1736205	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1736208	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.97[ASN][1000 genomes]
rs1736209	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs1736211	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1736212	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1736216	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1736217	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1736221	0.93[ASN][1000 genomes]
rs2012954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2018781	0.94[ASN][1000 genomes]
rs2292527	0.92[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2472689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36079048	0.90[ASN][1000 genomes]
rs3866959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62066065	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62066066	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6502564	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6502568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502569	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502571	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7217560	0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7220577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220827	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs7221553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7224598	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7225876	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066090	0.94[ASN][1000 genomes]
rs8080386	0.92[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs9892352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894565	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17148600-17179600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:17148600-17180000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:17148800-17179600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:17148800-17179600	Strong transcription	Fetal Muscle Leg	muscle
5	chr17:17148800-17179800	Strong transcription	Fetal Stomach	stomach
6	chr17:17148800-17180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:17148800-17180400	Strong transcription	Fetal Thymus	thymus
8	chr17:17149000-17179400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:17149000-17180800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:17149000-17181200	Strong transcription	Dnd41	blood
11	chr17:17149200-17179600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:17149200-17179600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:17149200-17179800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:17149400-17179600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr17:17149400-17179600	Strong transcription	Placenta	Placenta
16	chr17:17150000-17180000	Strong transcription	Primary T cells from cord blood	blood
17	chr17:17150200-17179400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:17150200-17179800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:17155000-17179800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:17156800-17179600	Strong transcription	Liver	Liver
21	chr17:17157600-17179600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:17159800-17179600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr17:17160400-17181800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:17160800-17179400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:17162200-17179400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:17163600-17182600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:17163800-17180400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:17167200-17179400	Strong transcription	Fetal Brain Female	brain
29	chr17:17167200-17179600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:17167200-17179800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:17167200-17180200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:17167800-17179400	Strong transcription	Brain Germinal Matrix	brain
33	chr17:17169400-17179600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:17169800-17181400	Strong transcription	Fetal Intestine Small	intestine
35	chr17:17169800-17183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:17171600-17182400	Weak transcription	Fetal Heart	heart
37	chr17:17171800-17183000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:17172000-17180600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:17173000-17179600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr17:17174200-17182400	Weak transcription	HMEC	breast
41	chr17:17174400-17182600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr17:17174600-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:17174600-17182400	Weak transcription	Psoas Muscle	Psoas
44	chr17:17174600-17182400	Weak transcription	Stomach Mucosa	stomach
45	chr17:17174600-17182400	Weak transcription	NHEK	skin
46	chr17:17174600-17183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:17174800-17182600	Weak transcription	HSMMtube	muscle
48	chr17:17174800-17183000	Weak transcription	HSMM	muscle
49	chr17:17175400-17179400	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr17:17175600-17179600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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