Variant report

Variant	rs4650031
Chromosome Location	chr1:70668723-70668724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70668667..70673217-chr1:70684547..70688689,8	K562	blood:
2	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:

Variant related genes	Relation type
ENSG00000228988	Chromatin interaction
ENSG00000116754	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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10489928	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12562802	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565362	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566666	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131235	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131248	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131251	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2034756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2210545	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274913	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297484	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297486	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2478801	0.89[AMR][1000 genomes]
rs34821575	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35262515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767206	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767207	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767214	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3920731	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4649913	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55727788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56902977	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58639674	0.86[ASN][1000 genomes]
rs58696538	0.90[EUR][1000 genomes]
rs58927829	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59234513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60272091	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60441970	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs632517	0.89[AMR][1000 genomes]
rs655588	0.85[AMR][1000 genomes]
rs668525	0.94[AMR][1000 genomes]
rs6702168	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs716240	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74085992	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74085996	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74085999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74088004	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088016	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74088024	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74088029	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74088032	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74088035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74088042	0.89[AMR][1000 genomes];0.98[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	esv3363438	chr1:70655980-70675467	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4650031	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
2	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
3	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
5	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
6	chr1:70615000-70670000	Weak transcription	NH-A	brain
7	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:70634000-70670400	Weak transcription	Lung	lung
10	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
11	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
12	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
13	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:70644800-70669800	Weak transcription	HSMM	muscle
15	chr1:70646200-70669200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:70650200-70669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:70650600-70669400	Weak transcription	Adipose Nuclei	Adipose
22	chr1:70650600-70669800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:70650600-70670200	Weak transcription	Fetal Thymus	thymus
24	chr1:70651400-70668800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:70651600-70669400	Weak transcription	Hela-S3	cervix
26	chr1:70651600-70669600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:70651600-70669800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:70651800-70669200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:70651800-70670400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:70652200-70669200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:70653000-70669400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:70653600-70669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:70655000-70669200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:70655600-70669000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:70656400-70669600	Weak transcription	NHEK	skin
36	chr1:70657000-70669800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:70657400-70669600	Weak transcription	NHLF	lung
38	chr1:70658600-70669200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:70658600-70669200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:70661800-70669000	Weak transcription	Liver	Liver
41	chr1:70662600-70669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:70664800-70669000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:70664800-70669800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:70666400-70670000	Enhancers	Fetal Brain Male	brain
45	chr1:70666600-70668800	Enhancers	K562	blood
46	chr1:70667400-70669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:70667600-70669600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:70667800-70670400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:70668000-70669200	Weak transcription	Fetal Lung	lung
50	chr1:70668000-70669800	Enhancers	Primary T helper cells PMA-I stimulated	--

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