Variant report

Variant	rs2144849
Chromosome Location	chr10:38259321-38259322
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	chr10:38259253..38262996-chr10:38263310..38267039,6	K562	blood:
2	chr10:38253941..38256453-chr10:38258306..38260474,2	K562	blood:

Variant related genes	Relation type
ENSG00000226447	Chromatin interaction
ENSG00000175395	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10764147	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10827835	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10827836	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11011407	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1208559	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1208592	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1208681	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1208684	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1208689	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1735577	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1779017	0.80[AMR][1000 genomes]
rs200903	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200910	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200924	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200935	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs200936	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200937	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200939	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs200943	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2180408	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257186	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2472150	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2504130	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504155	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2505232	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3851078	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4934916	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs496627	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs527163	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs619739	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs623149	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs623454	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs626519	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629577	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs639479	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs640774	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs645064	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs662945	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7069702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7099777	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs719569	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][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	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	nsv1052703	chr10:38174640-38266472	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2144849	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL
rs2144849	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38239600-38264400	Weak transcription	Fetal Heart	heart
2	chr10:38239600-38264600	Weak transcription	Stomach Mucosa	stomach
3	chr10:38240800-38264000	Weak transcription	NHLF	lung
4	chr10:38241800-38264400	Weak transcription	NHEK	skin
5	chr10:38242600-38264400	Weak transcription	HUVEC	blood vessel
6	chr10:38246400-38264000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr10:38246400-38264400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:38247000-38263000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:38252200-38260000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:38252200-38260600	ZNF genes & repeats	Fetal Brain Female	brain
11	chr10:38253200-38260000	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:38253400-38260000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:38253800-38263600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:38254000-38263800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr10:38254200-38261800	Weak transcription	Esophagus	oesophagus
16	chr10:38254200-38264000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:38254200-38264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:38254200-38264400	Weak transcription	NH-A	brain
19	chr10:38254200-38264600	Weak transcription	Gastric	stomach
20	chr10:38254200-38264600	Weak transcription	Pancreas	Pancrea
21	chr10:38254400-38263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:38254400-38263600	Weak transcription	Brain Angular Gyrus	brain
23	chr10:38254400-38264400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:38254400-38264400	Weak transcription	Aorta	Aorta
25	chr10:38254600-38259600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:38254600-38263600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:38254600-38263800	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:38254600-38263800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:38254600-38264200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:38254800-38264600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:38255400-38259800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:38255400-38260000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:38255600-38259800	Strong transcription	Brain Hippocampus Middle	brain
34	chr10:38255600-38264600	Weak transcription	Spleen	Spleen
35	chr10:38255800-38260400	Strong transcription	Adipose Nuclei	Adipose
36	chr10:38255800-38260600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:38255800-38260800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr10:38256000-38260000	Strong transcription	Brain Anterior Caudate	brain
39	chr10:38256000-38260600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:38256000-38260600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr10:38256000-38263800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:38256200-38259800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:38256400-38259800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:38256400-38259800	Strong transcription	Brain Substantia Nigra	brain
45	chr10:38256400-38264200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr10:38256600-38260000	Strong transcription	Primary T cells from cord blood	blood
47	chr10:38256600-38260000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:38256600-38260600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr10:38256600-38263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:38256600-38263800	Weak transcription	Dnd41	blood

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