Variant report

Variant	rs4981842
Chromosome Location	chr14:31861934-31861935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31861407..31863284-chr14:31887639..31889155,2	K562	blood:
2	chr14:31856402..31859394-chr14:31860227..31863431,5	K562	blood:
3	chr14:31856402..31859394-chr14:31860227..31862496,3	K562	blood:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10872851	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs11156666	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11156670	0.80[ASN][1000 genomes]
rs11624447	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11625148	0.83[EUR][1000 genomes]
rs11627106	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11627355	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12588420	1.00[CEU][hapmap];0.82[GIH][hapmap];0.98[TSI][hapmap];1.00[EUR][1000 genomes]
rs12893465	0.84[CEU][hapmap];0.86[GIH][hapmap];0.84[EUR][1000 genomes]
rs17097870	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1888576	0.84[CEU][hapmap];0.86[GIH][hapmap];0.82[EUR][1000 genomes]
rs2378865	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs34709766	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35904795	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs45490191	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4981092	0.85[EUR][1000 genomes]
rs56314035	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6571416	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144879	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7149240	0.96[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7150262	0.96[CEU][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs7152230	0.96[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7157977	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7159731	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8017888	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4981842	HEATR5A	cis	cerebellum	SCAN
rs4981842	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
5	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
10	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
16	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
17	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
18	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
19	chr14:31830600-31862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:31838000-31875000	Weak transcription	K562	blood
22	chr14:31839000-31862400	Weak transcription	Ovary	ovary
23	chr14:31841400-31864800	Weak transcription	NHEK	skin
24	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:31844000-31862600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:31844200-31865200	Weak transcription	Right Ventricle	heart
28	chr14:31847000-31878600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:31847600-31875000	Weak transcription	Stomach Mucosa	stomach
30	chr14:31847800-31865200	Weak transcription	NHLF	lung
31	chr14:31847800-31887400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:31848800-31862400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:31849400-31865400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:31851000-31862600	Weak transcription	Aorta	Aorta
35	chr14:31851000-31872600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:31851200-31870400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:31851200-31872400	Strong transcription	HepG2	liver
38	chr14:31851400-31862600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:31851600-31872800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:31852400-31867400	Weak transcription	HUVEC	blood vessel
41	chr14:31853000-31862000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:31853000-31862600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:31853000-31866800	Weak transcription	Fetal Brain Female	brain
44	chr14:31853000-31867400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:31853000-31870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:31853000-31870400	Weak transcription	Brain Angular Gyrus	brain
47	chr14:31853200-31862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:31853200-31862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:31853200-31875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr14:31853200-31880600	Weak transcription	HSMMtube	muscle

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