Variant report

Variant	rs7534585
Chromosome Location	chr1:120496119-120496120
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120491383..120493065-chr1:120495646..120497654,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10127888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494235	0.81[CEU][hapmap]
rs10923926	0.84[CEU][hapmap]
rs10923931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493691	0.84[AFR][1000 genomes]
rs1493694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493695	0.84[CEU][hapmap]
rs1493696	0.84[CEU][hapmap]
rs17024432	1.00[CHB][hapmap]
rs17186372	1.00[JPT][hapmap]
rs17258599	1.00[JPT][hapmap]
rs1738647	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027447	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453044	0.83[CEU][hapmap]
rs2453056	0.83[CEU][hapmap]
rs2453058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493390	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493410	0.83[CEU][hapmap]
rs2493411	0.83[CEU][hapmap]
rs2493413	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493415	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2493420	0.83[CEU][hapmap]
rs2641316	0.83[CEU][hapmap]
rs2641317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641346	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2641348	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641352	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793830	0.83[CEU][hapmap]
rs2793831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843024	1.00[JPT][hapmap]
rs2934381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327194	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs327196	0.84[CEU][hapmap]
rs327205	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs327206	0.91[CEU][hapmap]
rs3897478	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911328	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs406767	0.82[ASN][1000 genomes]
rs4659250	0.84[CEU][hapmap]
rs5025718	0.83[CEU][hapmap]
rs56302051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6685892	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688004	0.83[CEU][hapmap]
rs699779	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72697237	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835574	0.83[CEU][hapmap]
rs835575	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835576	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662844	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468400-120506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:120468400-120507400	Weak transcription	Right Ventricle	heart
3	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
4	chr1:120476400-120507400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:120477000-120497200	Weak transcription	Small Intestine	intestine
6	chr1:120478800-120508800	Weak transcription	A549	lung
7	chr1:120478800-120511000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:120479000-120511000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:120479600-120504000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:120480400-120507800	Weak transcription	Fetal Brain Female	brain
11	chr1:120480600-120503600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:120480600-120507400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:120484400-120506000	Weak transcription	Gastric	stomach
14	chr1:120484600-120505800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:120488800-120510400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:120489200-120499000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:120490000-120498000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:120490000-120498000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:120490000-120499000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:120490000-120500000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:120490000-120512400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:120490000-120514400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:120490000-120517600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:120490200-120496800	Strong transcription	Fetal Kidney	kidney
25	chr1:120490200-120498000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr1:120490200-120498000	Strong transcription	Placenta	Placenta
27	chr1:120490200-120498000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:120490200-120498000	Strong transcription	Dnd41	blood
29	chr1:120490200-120498200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:120490200-120512600	Strong transcription	Primary T cells from cord blood	blood
31	chr1:120490200-120512600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:120490200-120521000	Strong transcription	Primary B cells from cord blood	blood
33	chr1:120490400-120497800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:120490400-120498000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:120490400-120498000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:120490400-120498200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:120490400-120500800	Strong transcription	Adipose Nuclei	Adipose
38	chr1:120490400-120502600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:120490400-120512600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:120490600-120498200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:120490800-120496400	Strong transcription	Spleen	Spleen
42	chr1:120490800-120496400	Strong transcription	Hela-S3	cervix
43	chr1:120490800-120496600	Strong transcription	Fetal Lung	lung
44	chr1:120490800-120496600	Strong transcription	Fetal Stomach	stomach
45	chr1:120490800-120496600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:120490800-120498000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:120490800-120498000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:120490800-120498200	Strong transcription	NHEK	skin
49	chr1:120490800-120498600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:120490800-120499800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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