Variant report

Variant	rs2505232
Chromosome Location	chr10:38344700-38344701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10764147	0.82[AMR][1000 genomes]
rs10827835	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10827836	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11011407	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1208592	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13503	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1735577	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs176879	0.83[CEU][hapmap]
rs176885	0.83[CEU][hapmap]
rs176889	0.84[CEU][hapmap]
rs200924	0.82[AMR][1000 genomes]
rs200935	0.82[AMR][1000 genomes]
rs200936	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs200937	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs200939	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs200943	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2021650	0.84[CEU][hapmap]
rs2144849	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2180408	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2257186	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2472150	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2474570	0.83[CEU][hapmap]
rs2474573	0.83[CEU][hapmap]
rs2504130	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2504141	0.83[CEU][hapmap]
rs2504155	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2505203	0.81[CEU][hapmap]
rs3851078	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4934916	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs496627	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs619739	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs623149	0.81[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs623454	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs626519	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629577	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs639479	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs640774	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs645064	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662945	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7069702	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7099777	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs719569	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7915062	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2505232	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs2505232	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38307600-38346600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:38326600-38349200	Weak transcription	HepG2	liver
3	chr10:38334000-38350600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr10:38336200-38351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:38338000-38348200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr10:38338200-38348800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:38339200-38347800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr10:38340800-38345800	ZNF genes & repeats	Dnd41	blood
9	chr10:38340800-38347400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr10:38340800-38348400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:38340800-38351200	ZNF genes & repeats	Liver	Liver
12	chr10:38340800-38351600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr10:38340800-38353400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr10:38341000-38347000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr10:38341200-38346800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
16	chr10:38341200-38351200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr10:38341200-38353800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:38341400-38346400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr10:38341400-38346800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr10:38341400-38348200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr10:38341600-38346400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:38341600-38351200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr10:38341600-38351400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr10:38341600-38351600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:38341800-38347800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr10:38342000-38345200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:38342000-38345200	ZNF genes & repeats	Left Ventricle	heart
28	chr10:38342000-38345600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr10:38342000-38345600	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr10:38342000-38345600	ZNF genes & repeats	Ovary	ovary
31	chr10:38342000-38345600	ZNF genes & repeats	Psoas Muscle	Psoas
32	chr10:38342000-38345600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr10:38342000-38345600	ZNF genes & repeats	Thymus	Thymus
34	chr10:38342000-38346200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:38342000-38346400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:38342000-38346800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr10:38342000-38346800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:38342000-38346800	Strong transcription	Fetal Thymus	thymus
39	chr10:38342000-38347000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr10:38342000-38347000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:38342000-38347000	ZNF genes & repeats	GM12878-XiMat	blood
42	chr10:38342000-38347000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr10:38342000-38347200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
44	chr10:38342000-38347400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
45	chr10:38342000-38347400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr10:38342000-38347600	ZNF genes & repeats	HMEC	breast
47	chr10:38342000-38347800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr10:38342000-38348200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr10:38342000-38348200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr10:38342000-38348400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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