Variant report

Variant	rs3735644
Chromosome Location	chr7:127222157-127222158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127204431..127206594-chr7:127219494..127222300,2	MCF-7	breast:
2	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
3	chr7:127030414..127032802-chr7:127220953..127224227,3	K562	blood:
4	chr7:127193697..127196034-chr7:127222065..127224629,3	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1090682	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1090683	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12536382	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12671806	1.00[YRI][hapmap]
rs2073561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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]
rs2582717	0.81[CEU][hapmap]
rs327510	0.95[CEU][hapmap];0.85[GIH][hapmap];0.82[EUR][1000 genomes]
rs327511	0.82[EUR][1000 genomes]
rs327512	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs327516	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs327521	0.81[EUR][1000 genomes]
rs3735642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791028	0.84[ASN][1000 genomes]
rs594141	0.87[EUR][1000 genomes]
rs62481355	0.84[ASN][1000 genomes]
rs67719649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698406	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712697	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712698	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712699	0.83[EUR][1000 genomes]
rs712700	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712701	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712703	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs712704	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs712719	1.00[LWK][hapmap]
rs72607743	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806172	1.00[LWK][hapmap]
rs806175	0.81[CEU][hapmap]
rs806192	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs806193	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs806195	0.84[EUR][1000 genomes]
rs806196	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs806214	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806215	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806216	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806218	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806219	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised 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 target site	20 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	chr7:127216800-127222200	Weak transcription	Stomach Mucosa	stomach
2	chr7:127218000-127222200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127218000-127222800	Weak transcription	Hela-S3	cervix
4	chr7:127218000-127223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:127218000-127223200	Strong transcription	Primary B cells from cord blood	blood
6	chr7:127218000-127223400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:127218000-127223400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:127218200-127223200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:127218200-127223600	Strong transcription	Primary hematopoietic stem cells	blood
10	chr7:127218200-127223600	Strong transcription	Fetal Intestine Large	intestine
11	chr7:127218200-127223800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127218400-127222200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:127218800-127223400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:127219000-127223400	Strong transcription	K562	blood
15	chr7:127219200-127223600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr7:127219600-127222400	Strong transcription	Colonic Mucosa	Colon
17	chr7:127219600-127222800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:127219800-127223200	Genic enhancers	Liver	Liver
19	chr7:127220200-127223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:127220200-127224200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:127220400-127223600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:127220400-127223600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:127220600-127222200	Genic enhancers	Primary T cells from cord blood	blood
24	chr7:127220600-127223200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:127220800-127222200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:127220800-127223200	Strong transcription	NHEK	skin
27	chr7:127220800-127223200	Strong transcription	Osteobl	bone
28	chr7:127220800-127223400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:127220800-127223600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:127220800-127223600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:127220800-127223800	Genic enhancers	Brain Cingulate Gyrus	brain
32	chr7:127220800-127224000	Genic enhancers	Fetal Stomach	stomach
33	chr7:127221000-127222200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:127221000-127222200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:127221000-127222400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:127221000-127222400	Genic enhancers	Brain Germinal Matrix	brain
37	chr7:127221000-127222600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:127221000-127223200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:127221000-127223200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:127221000-127223200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:127221000-127223400	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:127221000-127223400	Strong transcription	Aorta	Aorta
43	chr7:127221000-127223400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:127221000-127223400	Genic enhancers	Fetal Brain Female	brain
45	chr7:127221000-127223600	Genic enhancers	Brain Angular Gyrus	brain
46	chr7:127221000-127223600	Genic enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:127221000-127223800	Genic enhancers	Dnd41	blood
48	chr7:127221000-127224000	Genic enhancers	Placenta	Placenta
49	chr7:127221000-127224200	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr7:127221000-127224200	Enhancers	Fetal Heart	heart

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