Variant report

Variant	rs626670
Chromosome Location	chr11:64761779-64761780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64759655..64763074-chr11:64796626..64799324,3	K562	blood:
2	chr11:64755840..64757853-chr11:64760002..64762288,3	K562	blood:
3	chr11:64756353..64758134-chr11:64760002..64761803,2	K562	blood:
4	chr11:64754069..64755968-chr11:64760951..64763260,2	MCF-7	breast:
5	chr11:64760845..64763146-chr11:64780977..64783906,2	MCF-7	breast:
6	chr11:64761070..64763113-chr11:64782531..64784584,2	K562	blood:

Variant related genes	Relation type
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000168062	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1206525	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17146441	0.84[TSI][hapmap]
rs2285346	0.84[TSI][hapmap]
rs240567	0.83[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs240571	0.83[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs240572	0.83[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs2670908	0.83[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs519796	0.86[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs529800	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs574381	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs628800	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs673995	0.86[MKK][hapmap]
rs675090	0.83[GIH][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs7937996	0.88[AMR][1000 genomes];0.97[EUR][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	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

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	chr11:64756400-64764600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64756800-64763800	Weak transcription	Psoas Muscle	Psoas
5	chr11:64757200-64763200	Weak transcription	Ovary	ovary
6	chr11:64757200-64766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:64757800-64763800	Weak transcription	Right Atrium	heart
8	chr11:64757800-64763800	Weak transcription	Small Intestine	intestine
9	chr11:64757800-64763800	Weak transcription	Stomach Mucosa	stomach
10	chr11:64758000-64762000	Weak transcription	Left Ventricle	heart
11	chr11:64758000-64762400	Weak transcription	Lung	lung
12	chr11:64758000-64763000	Weak transcription	Colonic Mucosa	Colon
13	chr11:64758000-64763600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:64758000-64763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:64758000-64763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:64758000-64763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:64758000-64763800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:64758000-64763800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:64758000-64764200	Weak transcription	A549	lung
20	chr11:64758000-64766000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:64758200-64762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:64758200-64762600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:64758200-64762600	Weak transcription	HepG2	liver
24	chr11:64758200-64762800	Strong transcription	Fetal Intestine Small	intestine
25	chr11:64758200-64763200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:64758200-64763800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:64758200-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:64758200-64764000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:64758200-64764000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:64758200-64764000	Weak transcription	Fetal Lung	lung
31	chr11:64758200-64764000	Weak transcription	NHLF	lung
32	chr11:64758200-64764000	Weak transcription	Osteobl	bone
33	chr11:64758200-64764200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:64758200-64764200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:64758400-64762600	Weak transcription	K562	blood
36	chr11:64758400-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:64758400-64764000	Weak transcription	HUVEC	blood vessel
38	chr11:64758400-64765800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:64759200-64761800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:64759400-64763000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:64759400-64763800	Weak transcription	GM12878-XiMat	blood
42	chr11:64759600-64763200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:64759600-64763200	Weak transcription	Placenta	Placenta
44	chr11:64759600-64763600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:64759600-64763800	Weak transcription	Primary B cells from cord blood	blood
46	chr11:64759600-64763800	Weak transcription	Gastric	stomach
47	chr11:64759600-64764000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:64759600-64764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:64760200-64762600	Weak transcription	Liver	Liver
50	chr11:64760400-64762600	Weak transcription	Fetal Intestine Large	intestine

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