Variant report

Variant	rs716240
Chromosome Location	chr1:70682414-70682415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70679935..70684301-chr1:70685237..70690690,9	K562	blood:
2	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
3	chr1:70669364..70673005-chr1:70681293..70684159,5	K562	blood:

Variant related genes	Relation type
ENSG00000228988	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000066557	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10489927	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10489928	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562802	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565362	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566666	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131235	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131251	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034756	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2210545	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274913	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297484	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297486	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478801	0.85[AMR][1000 genomes]
rs34821575	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35262515	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753817	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767206	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767207	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767208	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767214	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3920731	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4649913	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4650031	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55727788	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56902977	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58639674	0.86[ASN][1000 genomes]
rs58696538	0.88[EUR][1000 genomes]
rs58927829	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59234513	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60272091	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60441970	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs632517	0.85[AMR][1000 genomes]
rs655588	0.81[AMR][1000 genomes]
rs668525	0.89[AMR][1000 genomes]
rs6702168	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085992	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74085996	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74085999	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74088004	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088016	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088024	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74088029	0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74088032	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74088035	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088042	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs716240	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70672000-70686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:70672000-70687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70672400-70686800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:70672600-70686400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:70672600-70686600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:70672800-70686600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:70673000-70683400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:70673200-70686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:70673200-70686200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:70673200-70686400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:70673200-70686400	Weak transcription	HSMMtube	muscle
12	chr1:70673200-70686600	Weak transcription	NH-A	brain
13	chr1:70673400-70686200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:70673400-70686200	Weak transcription	HMEC	breast
15	chr1:70673400-70686400	Weak transcription	Fetal Brain Male	brain
16	chr1:70673400-70686600	Weak transcription	A549	lung
17	chr1:70673600-70686400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:70673800-70686000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:70673800-70686600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:70673800-70687200	Weak transcription	Small Intestine	intestine
21	chr1:70674200-70685800	Weak transcription	Right Ventricle	heart
22	chr1:70674200-70686600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:70674200-70686600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:70674200-70686800	Weak transcription	Aorta	Aorta
25	chr1:70674400-70686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:70674400-70686400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:70674400-70686600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:70674400-70686600	Weak transcription	Colonic Mucosa	Colon
29	chr1:70674400-70686600	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:70674600-70686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:70674600-70686600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:70675000-70682600	Weak transcription	HSMM	muscle
33	chr1:70675000-70685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:70675000-70686200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:70675400-70685800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:70675400-70686400	Weak transcription	Osteobl	bone
37	chr1:70676000-70686400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:70676200-70686400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:70676400-70686200	Weak transcription	Pancreas	Pancrea
40	chr1:70676400-70686200	Weak transcription	Psoas Muscle	Psoas
41	chr1:70676400-70686200	Weak transcription	Spleen	Spleen
42	chr1:70676400-70686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:70676400-70686600	Weak transcription	NHDF-Ad	bronchial
44	chr1:70676400-70686600	Weak transcription	NHLF	lung
45	chr1:70676400-70686800	Weak transcription	Ovary	ovary
46	chr1:70677400-70682800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:70677800-70683200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:70677800-70685200	Weak transcription	K562	blood
49	chr1:70677800-70685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:70678400-70684600	Strong transcription	HUVEC	blood vessel

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