Variant report

Variant	rs60441970
Chromosome Location	chr1:70732621-70732622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70689959..70694602-chr1:70727722..70733161,7	K562	blood:
2	chr1:70726364..70728149-chr1:70730296..70733268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10489927	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10489928	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12562802	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12565362	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566666	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17131235	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17131248	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17131251	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2034756	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2210545	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274913	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297484	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297486	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34821575	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35262515	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3753817	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3767206	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3767207	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767208	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767214	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3920731	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4649913	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650031	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55727788	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56902977	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58639674	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58696538	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58927829	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59234513	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60272091	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6702168	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs716240	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74085992	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74085996	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74085999	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74088004	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74088016	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74088024	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74088029	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74088032	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74088035	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74088042	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1014292	chr1:70689215-70799065	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60441970	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70700600-70738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70708600-70733800	Weak transcription	Pancreas	Pancrea
4	chr1:70710800-70756200	Weak transcription	Aorta	Aorta
5	chr1:70711200-70733000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:70711800-70733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:70714000-70767000	Weak transcription	HSMMtube	muscle
8	chr1:70714200-70756000	Weak transcription	Colonic Mucosa	Colon
9	chr1:70715600-70733600	Weak transcription	Thymus	Thymus
10	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
11	chr1:70715800-70747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:70715800-70756200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
15	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:70716600-70739000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:70716800-70732800	Weak transcription	Psoas Muscle	Psoas
18	chr1:70716800-70733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:70716800-70733600	Weak transcription	Ovary	ovary
20	chr1:70716800-70737800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
23	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:70717000-70733600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:70717000-70736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:70717000-70740200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:70717000-70746200	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:70717000-70755600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:70717000-70759000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:70717200-70759000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:70717600-70733000	Weak transcription	Fetal Intestine Large	intestine
32	chr1:70717600-70733200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:70717600-70736000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:70717600-70746000	Weak transcription	Fetal Brain Male	brain
35	chr1:70717600-70752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:70717600-70755000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:70717600-70765000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:70717800-70758000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:70717800-70761200	Weak transcription	NHLF	lung
41	chr1:70717800-70765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:70718000-70740400	Weak transcription	Hela-S3	cervix
44	chr1:70718000-70742000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:70718000-70746000	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:70718200-70755800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:70719000-70758800	Weak transcription	HMEC	breast
48	chr1:70719200-70783800	Weak transcription	A549	lung
49	chr1:70719400-70732800	Weak transcription	GM12878-XiMat	blood
50	chr1:70719400-70733000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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