Variant report

Variant	rs6672853
Chromosome Location	chr1:168311620-168311621
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168300197..168302893-chr1:168310234..168313350,3	K562	blood:
2	chr1:168311615..168313900-chr1:168348090..168350975,2	MCF-7	breast:
3	chr1:168303642..168305967-chr1:168309670..168312067,2	K562	blood:
4	chr1:168300197..168303468-chr1:168311046..168313350,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10465552	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860434	0.81[ASN][1000 genomes]
rs16860445	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1886004	0.81[ASN][1000 genomes]
rs2076061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2223293	0.81[ASN][1000 genomes]
rs2235299	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2268561	0.81[ASN][1000 genomes]
rs2268563	0.88[ASN][1000 genomes]
rs2268565	0.88[ASN][1000 genomes]
rs2268566	0.88[ASN][1000 genomes]
rs2284758	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes]
rs2284759	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs2284760	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs2284762	0.94[ASN][1000 genomes]
rs57956428	0.81[ASN][1000 genomes]
rs59227453	0.92[ASN][1000 genomes]
rs6427125	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7512612	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7512814	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7512951	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7551330	0.87[ASN][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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168283800-168312800	Weak transcription	Spleen	Spleen
2	chr1:168291000-168311800	Weak transcription	Ovary	ovary
3	chr1:168310000-168311800	Enhancers	GM12878-XiMat	blood
4	chr1:168310000-168312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:168310200-168311800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:168310200-168312400	Enhancers	HMEC	breast
7	chr1:168310400-168311800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:168310600-168312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:168310600-168313000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:168310600-168313000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:168310800-168311800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:168310800-168311800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:168310800-168312000	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:168310800-168312000	Enhancers	NHEK	skin
15	chr1:168310800-168312400	Enhancers	NH-A	brain
16	chr1:168310800-168312800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:168311000-168311800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:168311000-168311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:168311200-168313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:168311400-168311800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:168311400-168311800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:168311400-168311800	Enhancers	Hela-S3	cervix
23	chr1:168311400-168312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:168311400-168312400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:168311400-168312400	Enhancers	NHDF-Ad	bronchial
26	chr1:168311600-168311800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:168311600-168311800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr1:168311600-168311800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr1:168311600-168311800	Active TSS	Adipose Nuclei	Adipose
30	chr1:168311600-168311800	Enhancers	Liver	Liver
31	chr1:168311600-168311800	Enhancers	Brain Angular Gyrus	brain
32	chr1:168311600-168311800	Enhancers	Brain Hippocampus Middle	brain
33	chr1:168311600-168311800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:168311600-168311800	Enhancers	Fetal Brain Male	brain
35	chr1:168311600-168311800	Enhancers	Fetal Stomach	stomach
36	chr1:168311600-168311800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr1:168311600-168311800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:168311600-168311800	Enhancers	Dnd41	blood
39	chr1:168311600-168311800	Enhancers	HSMM	muscle
40	chr1:168311600-168311800	Bivalent Enhancer	HUVEC	blood vessel
41	chr1:168311600-168312000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:168311600-168312000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:168311600-168312000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:168311600-168312000	Flanking Active TSS	A549	lung
45	chr1:168311600-168312000	Flanking Active TSS	Osteobl	bone
46	chr1:168311600-168312200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:168311600-168312200	Active TSS	Stomach Smooth Muscle	stomach
48	chr1:168311600-168312400	Active TSS	Brain Anterior Caudate	brain
49	chr1:168311600-168312400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:168311600-168312600	Enhancers	Primary monocytes fromperipheralblood	blood

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