Variant report

Variant	rs7375091
Chromosome Location	chr3:139090389-139090390
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139075172..139079388-chr3:139085914..139092669,6	K562	blood:
2	chr3:139088868..139091914-chr3:139107086..139109851,3	K562	blood:

Variant related genes	Relation type
ENSG00000248932	Chromatin interaction
ENSG00000252245	Chromatin interaction
ENSG00000184432	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1017468	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1080371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10935322	0.81[AMR][1000 genomes]
rs11717119	0.81[AMR][1000 genomes]
rs13084900	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13326837	0.81[AMR][1000 genomes]
rs13327001	0.81[AMR][1000 genomes]
rs13327467	0.81[AMR][1000 genomes]
rs1580642	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1586862	0.81[AMR][1000 genomes]
rs167187	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs169824	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17395255	0.81[AMR][1000 genomes]
rs17395262	0.81[AMR][1000 genomes]
rs17395304	0.81[AMR][1000 genomes]
rs176982	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176983	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176985	0.84[EUR][1000 genomes]
rs176987	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs184155	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs186103	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs188420	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs188421	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071388	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2083336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2118981	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295469	0.82[EUR][1000 genomes]
rs295470	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295471	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295473	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs295474	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295478	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs295479	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs295481	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs295482	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs295484	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3888890	0.81[AMR][1000 genomes]
rs407958	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs432387	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4607068	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4683463	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57357132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439856	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6439860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6771831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6772199	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6784684	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6787649	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6803593	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7372124	0.81[AMR][1000 genomes]
rs7373116	0.81[AMR][1000 genomes]
rs7373657	0.81[AMR][1000 genomes]
rs7374317	0.81[AMR][1000 genomes]
rs7374348	0.81[AMR][1000 genomes]
rs7624321	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7652860	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9289574	0.81[AMR][1000 genomes]
rs9821891	0.81[AMR][1000 genomes]
rs9826544	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9833307	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9850987	0.81[AMR][1000 genomes]
rs9851318	0.81[AMR][1000 genomes]
rs9857390	0.81[AMR][1000 genomes]
rs9859864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs9868900	0.81[AMR][1000 genomes]
rs9869745	0.81[AMR][1000 genomes]
rs9871030	0.81[AMR][1000 genomes]
rs9879594	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139064400-139097200	Strong transcription	Fetal Muscle Leg	muscle
2	chr3:139064800-139094600	Strong transcription	Primary B cells from cord blood	blood
3	chr3:139065000-139096200	Strong transcription	Fetal Intestine Large	intestine
4	chr3:139065000-139101200	Strong transcription	Primary T cells from cord blood	blood
5	chr3:139065000-139103800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:139065000-139103800	Strong transcription	HSMM	muscle
7	chr3:139065000-139104000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:139065200-139093600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:139065200-139096800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:139065200-139098000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:139065200-139102000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:139065200-139102200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr3:139065400-139097600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:139065400-139102200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:139065400-139102400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr3:139065400-139102600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:139065400-139102600	Strong transcription	Osteobl	bone
18	chr3:139065400-139103600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:139065400-139103800	Strong transcription	Fetal Thymus	thymus
20	chr3:139065600-139100200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:139065600-139101800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:139065600-139102400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:139065600-139102400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:139065600-139102400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:139065600-139103600	Strong transcription	HUVEC	blood vessel
26	chr3:139065600-139103600	Strong transcription	NH-A	brain
27	chr3:139065600-139103800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr3:139065600-139103800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:139065800-139095000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:139065800-139096200	Strong transcription	Liver	Liver
31	chr3:139065800-139098200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr3:139065800-139098200	Strong transcription	HMEC	breast
33	chr3:139065800-139101600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:139065800-139101600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr3:139065800-139102400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:139065800-139102400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:139065800-139102600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:139065800-139102800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:139065800-139103200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr3:139065800-139103600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:139065800-139104400	Strong transcription	Dnd41	blood
42	chr3:139066000-139098200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:139066000-139098200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:139066000-139101800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:139066000-139103600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr3:139066200-139099600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:139066200-139102400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:139066200-139103800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:139066400-139102400	Strong transcription	Placenta	Placenta
50	chr3:139067000-139098000	Strong transcription	Fetal Kidney	kidney

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