Variant report

Variant	rs7575139
Chromosome Location	chr2:32291334-32291335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32262396..32266546-chr2:32286416..32291415,12	K562	blood:
2	chr2:32290727..32292444-chr2:32293437..32296073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10439444	0.80[ASN][1000 genomes]
rs10490360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124274	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124275	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11124276	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124277	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11676938	0.93[ASN][1000 genomes]
rs11681731	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11683842	0.80[AFR][1000 genomes]
rs11683931	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11686061	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11691879	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465124	0.85[ASN][1000 genomes]
rs12474443	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12611678	0.83[ASN][1000 genomes]
rs12614686	0.82[AFR][1000 genomes]
rs12617289	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12617290	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618002	0.82[ASN][1000 genomes]
rs12620922	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1272585	0.81[ASN][1000 genomes]
rs12989936	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12992743	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000753	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007972	0.84[ASN][1000 genomes]
rs13008192	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13017189	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13022197	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13024004	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029752	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033833	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13431540	0.83[ASN][1000 genomes]
rs17767988	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904489	0.81[ASN][1000 genomes]
rs212679	0.81[EUR][1000 genomes]
rs212715	0.81[EUR][1000 genomes]
rs212716	0.81[EUR][1000 genomes]
rs212717	0.81[EUR][1000 genomes]
rs212739	0.84[EUR][1000 genomes]
rs212745	0.82[EUR][1000 genomes]
rs212746	0.82[EUR][1000 genomes]
rs212760	0.81[EUR][1000 genomes]
rs216538	0.94[ASN][1000 genomes]
rs216544	0.91[ASN][1000 genomes]
rs2235134	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2280967	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280969	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294176	0.81[ASN][1000 genomes]
rs2294179	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2365555	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365558	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34856365	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35650265	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36014814	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3752916	0.83[ASN][1000 genomes]
rs3752917	0.81[ASN][1000 genomes]
rs3769604	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3769606	0.93[ASN][1000 genomes]
rs3851308	0.81[ASN][1000 genomes]
rs454119	0.89[ASN][1000 genomes]
rs467523	0.96[ASN][1000 genomes]
rs469305	0.82[ASN][1000 genomes]
rs4952247	0.85[EUR][1000 genomes]
rs4952249	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4952250	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55730514	0.81[ASN][1000 genomes]
rs56208031	0.82[ASN][1000 genomes]
rs56740303	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62142080	0.82[ASN][1000 genomes]
rs6543647	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6543649	0.85[EUR][1000 genomes]
rs660393	0.88[ASN][1000 genomes]
rs67157050	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737500	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738349	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6747488	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748621	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6749336	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752375	0.93[ASN][1000 genomes]
rs6758024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6760105	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6761417	0.82[ASN][1000 genomes]
rs678251	0.93[ASN][1000 genomes]
rs72862234	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7370704	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559964	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7561519	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566162	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573543	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7577408	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7577696	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581032	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7581340	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7586448	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7600173	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7600885	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7601267	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604559	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7605242	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7608127	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608229	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677104	0.82[ASN][1000 genomes]
rs9750659	0.83[ASN][1000 genomes]
rs9752631	0.86[ASN][1000 genomes]
rs9752651	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:32289800-32292200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:32289800-32292600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:32289800-32293800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:32289800-32297000	Weak transcription	Psoas Muscle	Psoas
7	chr2:32289800-32298400	Weak transcription	Small Intestine	intestine
8	chr2:32289800-32304000	Weak transcription	Ovary	ovary
9	chr2:32289800-32313800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:32289800-32314600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:32289800-32315800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
13	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
14	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:32290000-32291400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:32290000-32291400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:32290000-32291400	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:32290000-32291400	Enhancers	Fetal Heart	heart
19	chr2:32290000-32291600	Enhancers	Primary B cells from cord blood	blood
20	chr2:32290000-32291600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:32290000-32291600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:32290000-32292000	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:32290000-32292000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:32290000-32292000	Enhancers	Liver	Liver
25	chr2:32290000-32292400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:32290000-32292600	Enhancers	Fetal Brain Male	brain
27	chr2:32290000-32297400	Weak transcription	Osteobl	bone
28	chr2:32290000-32299600	Weak transcription	Thymus	Thymus
29	chr2:32290000-32315800	Weak transcription	Fetal Kidney	kidney
30	chr2:32290000-32315800	Weak transcription	HSMM	muscle
31	chr2:32290000-32316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:32290000-32318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:32290200-32291400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:32290200-32291400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:32290200-32291400	Enhancers	Fetal Intestine Large	intestine
36	chr2:32290200-32291400	Enhancers	Hela-S3	cervix
37	chr2:32290200-32291400	Enhancers	HepG2	liver
38	chr2:32290200-32291800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:32290200-32292000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:32290200-32292000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:32290200-32292400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:32290200-32295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:32290200-32313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:32290400-32291400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:32290400-32291400	Enhancers	Right Ventricle	heart
47	chr2:32290400-32292200	Weak transcription	Right Atrium	heart
48	chr2:32290400-32292600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr2:32290400-32293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:32290400-32297400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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