Variant report

Variant	rs6697421
Chromosome Location	chr1:168311579-168311580
allele	C/G
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	chr1:168303642..168305967-chr1:168309670..168312067,2	K562	blood:
3	chr1:168300197..168303468-chr1:168311046..168313350,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489210	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800356	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10918873	0.93[ASN][1000 genomes]
rs12034832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12123087	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12128782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12136596	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137679	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12403490	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12409703	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566982	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1569467	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860447	0.86[ASN][1000 genomes]
rs1977060	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2268556	0.84[ASN][1000 genomes]
rs2268557	0.86[ASN][1000 genomes]
rs2268559	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2268560	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2900726	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4656583	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6427127	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6670176	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7532903	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7555108	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs760685	0.86[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:32 , 50 per page) page: 1

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	chr1:168308400-168311600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:168308800-168311600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:168310000-168311800	Enhancers	GM12878-XiMat	blood
6	chr1:168310000-168312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:168310200-168311800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:168310200-168312400	Enhancers	HMEC	breast
9	chr1:168310400-168311800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:168310600-168311600	Enhancers	Osteobl	bone
11	chr1:168310600-168312600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:168310600-168313000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:168310600-168313000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:168310800-168311800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:168310800-168311800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:168310800-168312000	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:168310800-168312000	Enhancers	NHEK	skin
18	chr1:168310800-168312400	Enhancers	NH-A	brain
19	chr1:168310800-168312800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:168311000-168311800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:168311000-168311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:168311200-168311600	Weak transcription	K562	blood
23	chr1:168311200-168313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:168311400-168311600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:168311400-168311600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:168311400-168311600	Enhancers	A549	lung
27	chr1:168311400-168311800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:168311400-168311800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:168311400-168311800	Enhancers	Hela-S3	cervix
30	chr1:168311400-168312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:168311400-168312400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:168311400-168312400	Enhancers	NHDF-Ad	bronchial

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