Variant report

Variant	rs66491359
Chromosome Location	chr6:131313612-131313613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131308949..131310454-chr6:131311371..131314255,2	K562	blood:
2	chr6:131301483..131303877-chr6:131310985..131313836,2	MCF-7	breast:
3	chr6:131308949..131310665-chr6:131311371..131314257,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11961521	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11969461	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12527232	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12527605	0.84[ASN][1000 genomes]
rs12529894	0.85[ASN][1000 genomes]
rs13207929	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13208091	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13209830	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1332492	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1338906	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17180547	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1855078	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1977744	0.81[ASN][1000 genomes]
rs2327006	0.90[ASN][1000 genomes]
rs2327007	0.91[ASN][1000 genomes]
rs34445705	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34863373	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35273150	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908768	0.81[ASN][1000 genomes]
rs6923182	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6941909	0.81[ASN][1000 genomes]
rs72985722	0.88[ASN][1000 genomes]
rs72987859	0.87[ASN][1000 genomes]
rs72987891	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7743764	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7745206	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs946349	0.91[ASN][1000 genomes]
rs9483209	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9492768	0.81[ASN][1000 genomes]
rs9492776	0.88[ASN][1000 genomes]
rs9492784	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9492785	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9492799	0.82[AMR][1000 genomes];0.82[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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
3	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:131306800-131313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:131306800-131313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:131306800-131315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
8	chr6:131306800-131317200	Weak transcription	NHLF	lung
9	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
11	chr6:131308000-131315400	Weak transcription	Lung	lung
12	chr6:131308600-131314400	Weak transcription	Dnd41	blood
13	chr6:131309200-131317200	Weak transcription	Adipose Nuclei	Adipose
14	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:131311400-131318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:131312200-131314000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:131312400-131313800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:131312400-131314000	Weak transcription	Pancreas	Pancrea
19	chr6:131312400-131314600	Weak transcription	Right Atrium	heart
20	chr6:131312400-131317000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:131312400-131318400	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:131312600-131314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:131312600-131314800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:131312600-131314800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:131312600-131317400	Weak transcription	Fetal Stomach	stomach
26	chr6:131312600-131321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:131313000-131314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:131313000-131318400	Weak transcription	Fetal Kidney	kidney
29	chr6:131313200-131315400	Enhancers	A549	lung
30	chr6:131313200-131317000	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:131313400-131313800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:131313400-131313800	Enhancers	NHEK	skin
33	chr6:131313400-131314000	Enhancers	K562	blood
34	chr6:131313400-131315600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:131313400-131316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:131313600-131314000	Weak transcription	HepG2	liver
37	chr6:131313600-131315200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:131313600-131316800	Weak transcription	Fetal Lung	lung
39	chr6:131313600-131316800	Weak transcription	Osteobl	bone
40	chr6:131313600-131317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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