Variant report

Variant	rs200913
Chromosome Location	chr10:38116818-38116819
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38114753..38117348-chr10:38123432..38125815,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10508861	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11011371	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1208578	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1208619	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1208621	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12243792	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12265979	0.83[EUR][1000 genomes]
rs12412402	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12413854	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12414618	0.81[EUR][1000 genomes]
rs16937569	0.93[ASN][1000 genomes]
rs16937571	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1735625	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17608725	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1779073	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs200907	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs200909	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs200914	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs200941	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178958	0.80[EUR][1000 genomes]
rs2293962	0.80[EUR][1000 genomes]
rs2472153	0.81[EUR][1000 genomes]
rs2474553	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2489166	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2504137	0.81[EUR][1000 genomes]
rs2738221	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2753883	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3739992	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55738335	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55742761	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56905472	0.93[ASN][1000 genomes]
rs59486180	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67011531	0.93[ASN][1000 genomes]
rs7068885	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs766362	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7895468	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9418311	0.81[AMR][1000 genomes];0.86[EUR][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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs200913	ZNF37A	Cis_1M	lymphoblastoid	RTeQTL
rs200913	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38103800-38118000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:38111200-38117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:38111200-38118400	Weak transcription	HepG2	liver
4	chr10:38113200-38117400	Weak transcription	Fetal Heart	heart
5	chr10:38113200-38118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:38113600-38117800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:38113600-38118000	Weak transcription	Brain Substantia Nigra	brain
8	chr10:38114000-38118800	Weak transcription	HSMMtube	muscle
9	chr10:38114000-38128800	ZNF genes & repeats	Liver	Liver
10	chr10:38114200-38117200	Weak transcription	Dnd41	blood
11	chr10:38114200-38119000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:38114400-38123600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr10:38114400-38125600	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr10:38114400-38125800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:38114400-38130000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr10:38114600-38117400	Weak transcription	NH-A	brain
17	chr10:38114600-38120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:38114800-38117800	Weak transcription	Placenta	Placenta
19	chr10:38114800-38120600	Weak transcription	Fetal Stomach	stomach
20	chr10:38115200-38118400	Weak transcription	Stomach Mucosa	stomach
21	chr10:38115400-38117000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:38115400-38118000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:38115600-38117400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr10:38115600-38129000	ZNF genes & repeats	A549	lung
25	chr10:38115600-38138200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:38115800-38117000	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr10:38115800-38118600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:38115800-38119000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr10:38115800-38122800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:38115800-38123000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr10:38115800-38123000	ZNF genes & repeats	Aorta	Aorta
32	chr10:38115800-38123600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr10:38115800-38132200	ZNF genes & repeats	Fetal Brain Female	brain
34	chr10:38116000-38117000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr10:38116000-38117600	Strong transcription	Fetal Lung	lung
36	chr10:38116000-38117600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr10:38116000-38118000	Strong transcription	Brain Germinal Matrix	brain
38	chr10:38116000-38118400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:38116000-38120000	Strong transcription	Left Ventricle	heart
40	chr10:38116000-38122800	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr10:38116000-38123000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:38116000-38128800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:38116200-38117000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr10:38116200-38117000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr10:38116200-38117200	Strong transcription	Ovary	ovary
46	chr10:38116200-38117800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:38116200-38118000	Strong transcription	Fetal Intestine Large	intestine
48	chr10:38116200-38118000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr10:38116200-38118000	Weak transcription	HSMM	muscle
50	chr10:38116200-38119000	Strong transcription	Fetal Kidney	kidney

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