Variant report

Variant	rs7565035
Chromosome Location	chr2:148997485-148997486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148995742..148998637-chr2:149000873..149004003,3	MCF-7	breast:
2	chr2:148994771..148998300-chr2:149002088..149006299,3	K562	blood:
3	chr2:148996066..148998300-chr2:149002088..149004966,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10206569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210377	0.88[ASN][1000 genomes]
rs10928388	0.91[ASN][1000 genomes]
rs10928389	0.88[ASN][1000 genomes]
rs10928390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120671	0.86[ASN][1000 genomes]
rs11685302	0.91[ASN][1000 genomes]
rs12691780	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12691781	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13027785	0.88[ASN][1000 genomes]
rs13392141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13425594	0.88[ASN][1000 genomes]
rs1449960	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2044760	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2044761	0.88[ASN][1000 genomes]
rs2167127	0.91[ASN][1000 genomes]
rs2890917	0.86[ASN][1000 genomes]
rs35749985	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972276	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4972343	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6430305	0.86[ASN][1000 genomes]
rs6721794	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7570104	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs961207	0.84[ASN][1000 genomes]
rs991554	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148984400-149011800	Weak transcription	Gastric	stomach
2	chr2:148984800-149011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:148985400-149011200	Weak transcription	Pancreas	Pancrea
4	chr2:148986000-149002200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:148986800-149011600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:148989200-149000200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:148990200-149011400	Weak transcription	Spleen	Spleen
8	chr2:148992400-148997600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:148992600-149009600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:148993200-148999400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:148993200-148999600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:148994200-149002200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:148994600-148998400	Weak transcription	Fetal Brain Female	brain
14	chr2:148994800-148997600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:148994800-148998000	Weak transcription	Thymus	Thymus
16	chr2:148994800-149016600	Weak transcription	Fetal Brain Male	brain
17	chr2:148995000-148997600	Strong transcription	Fetal Lung	lung
18	chr2:148995000-148998600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:148995000-148998800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:148995000-149001400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:148995000-149002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:148995000-149002000	Weak transcription	NHDF-Ad	bronchial
23	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
24	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
25	chr2:148995200-148998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:148995200-148998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:148995200-148998600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:148995200-149011000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:148995200-149011400	Weak transcription	Placenta	Placenta
30	chr2:148995400-148997800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:148995400-148998000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:148995400-148998200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:148995400-148998600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:148995400-148999000	Weak transcription	Primary B cells from cord blood	blood
35	chr2:148995400-148999000	Weak transcription	Fetal Thymus	thymus
36	chr2:148995400-149001800	Weak transcription	Osteobl	bone
37	chr2:148995400-149002200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:148995400-149002200	Weak transcription	HSMM	muscle
39	chr2:148995400-149003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:148995400-149010400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:148995400-149011200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:148995400-149011200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:148995400-149011400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:148995400-149013400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:148995400-149015200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:148995600-148998800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:148995600-149001600	Weak transcription	Liver	Liver
48	chr2:148995600-149008400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:148995800-148998800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:148995800-149002000	Weak transcription	Muscle Satellite Cultured Cells	--

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