Variant report

Variant	rs61785269
Chromosome Location	chr1:70649135-70649136
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	chr1:70648453..70650551-chr1:70669732..70672343,2	K562	blood:
2	chr1:70648453..70649982-chr1:70670347..70672343,2	K562	blood:

Variant related genes	Relation type
ENSG00000116754	Chromatin interaction
ENSG00000066557	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1412867	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17131236	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17131238	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17131241	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34121744	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35522955	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3753818	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476591	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs522320	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs549843	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56299138	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56873377	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57098486	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs587567	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60409157	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60598073	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs610953	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61785267	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61785270	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61785272	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs632047	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs651717	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs666163	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664084	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6664480	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6666941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6700543	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs676753	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74085998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7533067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv823143	chr1:70648034-70650285	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3320170	chr1:70648087-70650405	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3320171	chr1:70648088-70650383	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3320169	chr1:70648149-70650325	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3320172	chr1:70648213-70650222	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61785269	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
5	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
6	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:70608400-70653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
10	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
11	chr1:70609200-70650200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:70609400-70649800	Weak transcription	Fetal Brain Male	brain
13	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:70610000-70667800	Weak transcription	HepG2	liver
16	chr1:70610400-70650200	Weak transcription	GM12878-XiMat	blood
17	chr1:70610400-70653600	Weak transcription	Gastric	stomach
18	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
21	chr1:70611400-70652800	Weak transcription	Spleen	Spleen
22	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
23	chr1:70613000-70649200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:70613800-70649200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:70614400-70651000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
31	chr1:70615000-70670000	Weak transcription	NH-A	brain
32	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:70615200-70649200	Weak transcription	Left Ventricle	heart
34	chr1:70616400-70649200	Weak transcription	Fetal Lung	lung
35	chr1:70622600-70651400	Weak transcription	HMEC	breast
36	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:70623000-70661600	Weak transcription	K562	blood
38	chr1:70623200-70652000	Weak transcription	Osteobl	bone
39	chr1:70624000-70650200	Weak transcription	Hela-S3	cervix
40	chr1:70626800-70649800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:70632600-70656800	Weak transcription	NHLF	lung
43	chr1:70634000-70670400	Weak transcription	Lung	lung
44	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
45	chr1:70634400-70649200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:70634400-70649200	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
48	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:70634800-70651000	Weak transcription	Primary T cells from cord blood	blood
50	chr1:70635000-70650600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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