Variant report

Variant	rs7918559
Chromosome Location	chr10:52377748-52377749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52373141..52377774-chr10:52378271..52384648,13	K562	blood:
2	chr10:52315813..52318278-chr10:52376288..52379260,2	K562	blood:
3	chr10:52355970..52358426-chr10:52377071..52379971,2	K562	blood:
4	chr10:52346092..52348176-chr10:52375554..52378162,2	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10740762	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10763590	0.93[EUR][1000 genomes]
rs10826242	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11006281	0.87[ASN][1000 genomes]
rs17497064	0.84[ASN][1000 genomes]
rs3001879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3001883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3001885	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3011714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3011751	0.80[AMR][1000 genomes]
rs4268459	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4519042	0.83[AFR][1000 genomes]
rs4935735	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4935736	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4935737	0.84[ASN][1000 genomes]
rs4935739	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6481442	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6481461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7067552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7073182	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7089882	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7090996	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7094655	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7097359	0.94[EUR][1000 genomes]
rs7903649	0.94[EUR][1000 genomes]
rs7904101	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7908136	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7909486	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7918559	FLJ31958	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52365400-52379400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:52365800-52378200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:52366000-52381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:52366600-52377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:52367200-52377800	Weak transcription	Primary B cells from cord blood	blood
6	chr10:52367200-52379400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:52367400-52381400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:52367600-52378400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr10:52367600-52381400	Weak transcription	NHLF	lung
10	chr10:52367600-52381400	Weak transcription	Osteobl	bone
11	chr10:52369000-52378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:52370200-52378400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:52370800-52378400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:52371000-52381200	Weak transcription	Fetal Stomach	stomach
15	chr10:52371200-52378200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr10:52371200-52381600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:52371800-52378400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:52372600-52381600	Weak transcription	Aorta	Aorta
19	chr10:52372800-52379200	Weak transcription	Fetal Brain Male	brain
20	chr10:52373000-52380600	Weak transcription	Fetal Intestine Small	intestine
21	chr10:52373200-52378400	Weak transcription	Brain Germinal Matrix	brain
22	chr10:52373200-52380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:52373400-52378800	Weak transcription	Gastric	stomach
24	chr10:52374000-52378200	Weak transcription	Fetal Kidney	kidney
25	chr10:52374200-52378600	Weak transcription	Fetal Lung	lung
26	chr10:52374200-52381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:52374400-52377800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:52374400-52378400	Weak transcription	Brain Substantia Nigra	brain
29	chr10:52374400-52380600	Weak transcription	Fetal Intestine Large	intestine
30	chr10:52374400-52381200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:52374400-52381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:52374400-52381600	Weak transcription	Spleen	Spleen
33	chr10:52374600-52377800	Weak transcription	GM12878-XiMat	blood
34	chr10:52374600-52378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:52374600-52378400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:52374600-52378400	Weak transcription	Esophagus	oesophagus
37	chr10:52374600-52379800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:52374600-52380800	Weak transcription	Fetal Muscle Leg	muscle
39	chr10:52374600-52381600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:52374800-52377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:52374800-52378000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr10:52374800-52378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:52374800-52378000	Weak transcription	HMEC	breast
44	chr10:52374800-52378200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:52374800-52378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:52374800-52378600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:52374800-52380000	Weak transcription	HepG2	liver
48	chr10:52374800-52381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr10:52375000-52378400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:52375000-52378400	Weak transcription	Fetal Thymus	thymus

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