Variant report

Variant	rs674981
Chromosome Location	chr11:64759910-64759911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr11:64759794-64760037	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64759646..64761184-chr11:64762950..64764464,2	K562	blood:
2	chr11:64759655..64763074-chr11:64796626..64799324,3	K562	blood:
3	chr11:64610242..64612871-chr11:64758372..64760520,2	K562	blood:
4	chr11:64758212..64760438-chr11:64781054..64782935,2	K562	blood:

Variant related genes	Relation type
BATF2	TF binding region
ENSG00000171219	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10792454	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11231912	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1152642	0.92[ASN][1000 genomes]
rs1196617	1.00[ASN][1000 genomes]
rs1196618	1.00[ASN][1000 genomes]
rs1196903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226283	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs183578	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs183579	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs240568	0.89[ASN][1000 genomes]
rs240569	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs240570	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2670909	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs471772	0.96[ASN][1000 genomes]
rs484182	0.81[CHB][hapmap]
rs495330	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs528941	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs532508	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs534236	0.81[CHB][hapmap]
rs551292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs57751380	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs582378	0.96[ASN][1000 genomes]
rs582580	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs586616	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587835	0.91[ASN][1000 genomes]
rs589351	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs596321	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs600868	0.96[ASN][1000 genomes]
rs602404	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610208	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs615709	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616124	0.92[ASN][1000 genomes]
rs616341	0.94[ASN][1000 genomes]
rs61893590	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs650506	0.91[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs654772	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs659122	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591869	0.81[CHB][hapmap]
rs660165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs663767	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs664226	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs670524	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688368	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694907	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases
3	esv2750762	chr11:64758957-64761108	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64752400-64764200	Weak transcription	Aorta	Aorta
2	chr11:64755000-64764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:64756200-64761600	Weak transcription	Pancreas	Pancrea
4	chr11:64756400-64764600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64756800-64763800	Weak transcription	Psoas Muscle	Psoas
6	chr11:64757200-64763200	Weak transcription	Ovary	ovary
7	chr11:64757200-64766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64757800-64763800	Weak transcription	Right Atrium	heart
9	chr11:64757800-64763800	Weak transcription	Small Intestine	intestine
10	chr11:64757800-64763800	Weak transcription	Stomach Mucosa	stomach
11	chr11:64758000-64760800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:64758000-64761000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:64758000-64762000	Weak transcription	Left Ventricle	heart
14	chr11:64758000-64762400	Weak transcription	Lung	lung
15	chr11:64758000-64763000	Weak transcription	Colonic Mucosa	Colon
16	chr11:64758000-64763600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:64758000-64763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:64758000-64763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:64758000-64763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:64758000-64763800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:64758000-64763800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:64758000-64764200	Weak transcription	A549	lung
23	chr11:64758000-64766000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:64758200-64761000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:64758200-64762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:64758200-64762600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:64758200-64762600	Weak transcription	HepG2	liver
28	chr11:64758200-64762800	Strong transcription	Fetal Intestine Small	intestine
29	chr11:64758200-64763200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:64758200-64763800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:64758200-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:64758200-64764000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:64758200-64764000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:64758200-64764000	Weak transcription	Fetal Lung	lung
35	chr11:64758200-64764000	Weak transcription	NHLF	lung
36	chr11:64758200-64764000	Weak transcription	Osteobl	bone
37	chr11:64758200-64764200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:64758200-64764200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:64758400-64761000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:64758400-64762600	Weak transcription	K562	blood
41	chr11:64758400-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:64758400-64764000	Weak transcription	HUVEC	blood vessel
43	chr11:64758400-64765800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:64759200-64760000	Strong transcription	Liver	Liver
45	chr11:64759200-64760400	Strong transcription	Fetal Intestine Large	intestine
46	chr11:64759200-64761600	Weak transcription	Adipose Nuclei	Adipose
47	chr11:64759200-64761800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:64759400-64760400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:64759400-64763000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:64759400-64763800	Weak transcription	GM12878-XiMat	blood

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