Variant report

Variant	rs73355758
Chromosome Location	chr7:64349005-64349006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64340851..64342606-chr7:64346677..64349017,2	MCF-7	breast:
2	chr7:64126269..64128112-chr7:64346741..64349420,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196247	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10239449	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243927	0.94[EUR][1000 genomes]
rs10253614	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258018	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259016	0.94[EUR][1000 genomes]
rs10259713	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265110	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269760	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274861	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499782	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333583	0.91[EUR][1000 genomes]
rs12531509	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531631	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533393	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535068	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535862	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536001	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537864	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537906	0.90[ASN][1000 genomes]
rs12538078	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539165	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539507	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539509	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405009	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534148	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146448	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830077	0.92[ASN][1000 genomes]
rs1830080	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880658	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398905	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591657	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863926	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664768	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829005	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382350	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718164	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58472271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59122385	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67615162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72504857	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363366	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363367	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783460	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7802123	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884965	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1018967	chr7:64318129-64380869	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64348200-64350000	Bivalent/Poised TSS	HepG2	liver
2	chr7:64348400-64349200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:64348400-64349400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
4	chr7:64348400-64349400	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr7:64348400-64349400	Active TSS	Colonic Mucosa	Colon
6	chr7:64348400-64349800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:64348400-64349800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr7:64348400-64350000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
9	chr7:64348400-64350000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:64348400-64350000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
11	chr7:64348400-64350200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
12	chr7:64348400-64350200	Active TSS	Colon Smooth Muscle	Colon
13	chr7:64348400-64350200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr7:64348400-64350200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr7:64348600-64349200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr7:64348600-64349200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:64348600-64349200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr7:64348600-64349200	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
19	chr7:64348600-64349200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr7:64348600-64349200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr7:64348600-64349200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr7:64348600-64349400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
23	chr7:64348600-64349400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:64348600-64349400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:64348600-64349400	Enhancers	Spleen	Spleen
26	chr7:64348600-64349400	Bivalent/Poised TSS	NHEK	skin
27	chr7:64348600-64349600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr7:64348600-64349600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:64348600-64349600	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr7:64348600-64349600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr7:64348600-64349800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:64348600-64349800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:64348600-64349800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:64348600-64349800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr7:64348600-64349800	Active TSS	Gastric	stomach
36	chr7:64348600-64350000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:64348600-64350000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:64348600-64350000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr7:64348600-64350000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr7:64348600-64350000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr7:64348600-64350000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr7:64348600-64350000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr7:64348600-64350000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:64348600-64350000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr7:64348600-64350000	Flanking Active TSS	Ovary	ovary
46	chr7:64348600-64350000	Bivalent/Poised TSS	Thymus	Thymus
47	chr7:64348600-64350000	Bivalent/Poised TSS	A549	lung
48	chr7:64348600-64350200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:64348600-64350200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:64348600-64350200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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