Variant report

Variant	rs59244622
Chromosome Location	chr2:97501632-97501633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97501546..97504134-chr2:97533260..97535202,2	K562	blood:
2	chr2:97494986..97497839-chr2:97501507..97505015,3	MCF-7	breast:
3	chr2:97500023..97502292-chr2:97598667..97600575,2	MCF-7	breast:
4	chr2:97498894..97501662-chr2:97504952..97507500,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168758	Chromatin interaction
ENSG00000163126	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10203346	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10439526	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11897786	0.85[EUR][1000 genomes]
rs12172	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1320146	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13419073	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119598	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276654	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3731941	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4077343	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58147284	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.83[ASN][1000 genomes]
rs62152783	0.83[ASN][1000 genomes]
rs62152785	0.83[ASN][1000 genomes]
rs62152786	0.81[ASN][1000 genomes]
rs62152787	0.83[ASN][1000 genomes]
rs62152788	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62152790	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152793	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152794	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152834	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152860	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152863	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62152864	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6576986	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576987	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576989	0.82[EUR][1000 genomes]
rs6753987	0.93[EUR][1000 genomes]
rs6756482	0.83[ASN][1000 genomes]
rs72811623	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72811627	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72811629	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7580942	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9973492	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
2	chr2:97486000-97505000	Strong transcription	Fetal Stomach	stomach
3	chr2:97487200-97501800	Strong transcription	Primary T cells from cord blood	blood
4	chr2:97487200-97504000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:97487400-97501800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:97487400-97504200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:97487600-97504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:97488200-97501800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:97488600-97504600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:97489400-97506600	Strong transcription	Dnd41	blood
11	chr2:97489400-97509000	Strong transcription	Brain Cingulate Gyrus	brain
12	chr2:97490200-97507800	Strong transcription	Brain Anterior Caudate	brain
13	chr2:97490400-97501800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:97490600-97504000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:97496200-97512400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:97496600-97504200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:97496600-97504200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:97498400-97513400	Weak transcription	NHEK	skin
19	chr2:97499000-97502600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:97499000-97504800	Weak transcription	HMEC	breast
21	chr2:97499000-97505200	Weak transcription	NH-A	brain
22	chr2:97499200-97501800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:97499200-97503200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:97499200-97503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:97499200-97503400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:97499200-97503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:97499200-97503400	Weak transcription	Spleen	Spleen
28	chr2:97499200-97503800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:97499200-97503800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:97499200-97503800	Weak transcription	Gastric	stomach
31	chr2:97499200-97504400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:97499200-97504600	Weak transcription	Colonic Mucosa	Colon
33	chr2:97499200-97504600	Weak transcription	Right Ventricle	heart
34	chr2:97499200-97504800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:97499200-97504800	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:97499200-97504800	Weak transcription	Esophagus	oesophagus
37	chr2:97499200-97505000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:97499200-97505000	Weak transcription	Right Atrium	heart
39	chr2:97499200-97505200	Weak transcription	Ovary	ovary
40	chr2:97499200-97505400	Weak transcription	NHDF-Ad	bronchial
41	chr2:97499200-97507400	Weak transcription	Psoas Muscle	Psoas
42	chr2:97499200-97507600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:97499200-97512400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:97499200-97512800	Weak transcription	Osteobl	bone
45	chr2:97499200-97513200	Weak transcription	Aorta	Aorta
46	chr2:97499200-97513400	Weak transcription	Small Intestine	intestine
47	chr2:97499200-97513600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:97499200-97522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:97499400-97503400	Weak transcription	Lung	lung
50	chr2:97499400-97503600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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