Variant report

Variant	rs1464804
Chromosome Location	chr7:17960827-17960828
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49517609..49519585-chr7:17958357..17960891,2	MCF-7	breast:
2	chr7:17959678..17962462-chr7:17978932..17982604,5	MCF-7	breast:
3	chr7:17960780..17962471-chr7:17963937..17966295,2	MCF-7	breast:
4	chr7:17960038..17961938-chr7:17962432..17964093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197261	Chromatin interaction
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10216315	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs10227224	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs10227501	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs10227582	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs10231926	0.82[ASN][1000 genomes]
rs10265373	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11768866	0.86[CHB][hapmap]
rs11983260	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12699918	0.83[CHB][hapmap]
rs1357796	0.87[CHB][hapmap]
rs1524775	0.81[CHB][hapmap]
rs1524776	0.86[CHB][hapmap]
rs1568815	0.88[ASN][1000 genomes]
rs1568817	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs1568818	0.87[ASN][1000 genomes]
rs2177652	0.86[CHB][hapmap]
rs2691558	0.87[ASN][1000 genomes]
rs2691559	0.86[CHB][hapmap]
rs2691560	0.88[ASN][1000 genomes]
rs2691561	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2691562	0.96[CHB][hapmap];0.88[ASN][1000 genomes]
rs2691563	0.88[ASN][1000 genomes]
rs2691564	0.96[CHB][hapmap];0.88[ASN][1000 genomes]
rs2691566	0.96[CHB][hapmap];0.88[ASN][1000 genomes]
rs2691567	0.86[ASN][1000 genomes]
rs2691568	0.88[ASN][1000 genomes]
rs2691569	0.88[ASN][1000 genomes]
rs2691570	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2691571	0.88[ASN][1000 genomes]
rs2691577	0.83[ASN][1000 genomes]
rs2691578	0.83[ASN][1000 genomes]
rs2691579	0.81[ASN][1000 genomes]
rs2691580	0.96[CHB][hapmap];0.82[ASN][1000 genomes]
rs2691588	0.87[YRI][hapmap]
rs2691600	0.87[CHB][hapmap]
rs2691606	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2691609	0.86[CHB][hapmap]
rs2691611	0.86[CHB][hapmap]
rs2691612	0.87[CHB][hapmap]
rs2691615	0.82[CHB][hapmap]
rs2714855	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2714857	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2714859	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2714860	0.88[ASN][1000 genomes]
rs2714861	0.88[ASN][1000 genomes]
rs2714862	0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2714863	0.87[ASN][1000 genomes]
rs2714864	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2714865	0.88[ASN][1000 genomes]
rs2714866	0.96[CHB][hapmap];0.88[ASN][1000 genomes]
rs2714867	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2714868	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2714869	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2714870	0.96[CHB][hapmap];0.88[ASN][1000 genomes]
rs2714871	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2714872	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2723540	0.87[CHB][hapmap]
rs2723541	0.91[YRI][hapmap];0.86[EUR][1000 genomes]
rs4543433	0.86[CHB][hapmap]
rs4719525	0.86[ASN][1000 genomes]
rs4721671	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:17948200-17961000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:17948600-17962800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:17952800-17964400	Weak transcription	Gastric	stomach
5	chr7:17953000-17961600	Weak transcription	Aorta	Aorta
6	chr7:17953000-17963000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:17953200-17964600	Weak transcription	Esophagus	oesophagus
8	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:17955200-17964000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:17955200-17966200	Weak transcription	Pancreas	Pancrea
11	chr7:17955400-17961200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:17955400-17967000	Weak transcription	Lung	lung
13	chr7:17955400-17973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:17958000-17961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:17958400-17961000	Weak transcription	HepG2	liver
16	chr7:17958400-17961600	Weak transcription	Primary B cells from cord blood	blood
17	chr7:17959000-17961600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:17959000-17971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:17959600-17972800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:17960200-17961800	Enhancers	Brain Angular Gyrus	brain
21	chr7:17960200-17964400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:17960400-17962600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:17960600-17961400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:17960600-17961400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:17960600-17961800	Enhancers	Brain Substantia Nigra	brain
26	chr7:17960600-17962000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:17960600-17962000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:17960600-17962000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:17960600-17962000	Enhancers	Right Atrium	heart
30	chr7:17960600-17962000	Enhancers	Small Intestine	intestine
31	chr7:17960600-17962400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:17960600-17962400	Enhancers	Fetal Heart	heart
33	chr7:17960600-17962400	Enhancers	Right Ventricle	heart
34	chr7:17960800-17961000	Enhancers	Primary T cells from cord blood	blood
35	chr7:17960800-17961200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:17960800-17961200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:17960800-17961400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:17960800-17961400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:17960800-17961600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:17960800-17961600	Weak transcription	Left Ventricle	heart
41	chr7:17960800-17961800	Enhancers	Brain Anterior Caudate	brain
42	chr7:17960800-17962200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:17960800-17962200	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:17960800-17962400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:17960800-17962400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:17960800-17963400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr7:17960800-17964400	Weak transcription	Psoas Muscle	Psoas
48	chr7:17960800-17965000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:17960800-17965600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:17960800-17967800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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