Variant report

Variant	rs4838416
Chromosome Location	chr10:49729231-49729232
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49716373..49718615-chr10:49727056..49729940,2	MCF-7	breast:
2	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
3	chr10:49655464..49657774-chr10:49727812..49730499,2	K562	blood:
4	chr10:49727015..49729249-chr10:49730487..49733103,2	MCF-7	breast:
5	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10776611	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10776612	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10776613	0.82[ASN][1000 genomes]
rs10857593	0.91[ASN][1000 genomes]
rs11101348	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs11101349	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs11101363	0.80[MEX][hapmap]
rs11101370	0.80[JPT][hapmap]
rs11101371	0.80[JPT][hapmap]
rs11101372	0.82[ASN][1000 genomes]
rs12763969	0.90[JPT][hapmap]
rs12768718	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs2278676	0.90[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs34223875	0.82[ASN][1000 genomes]
rs4012792	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4838413	0.90[JPT][hapmap]
rs4838608	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs4838609	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs4838613	0.82[ASN][1000 genomes]
rs4838616	0.88[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6537565	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs7088885	0.84[ASN][1000 genomes]
rs7098760	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs7896115	0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7910327	0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7918009	0.82[ASN][1000 genomes]
rs935273	0.80[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4838416	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49721400-49732000	Weak transcription	HMEC	breast
3	chr10:49723800-49729600	Weak transcription	HSMM	muscle
4	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
5	chr10:49725000-49730000	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:49725400-49730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:49725800-49730200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:49726800-49729800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:49727000-49731000	Weak transcription	Pancreas	Pancrea
10	chr10:49727200-49729800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:49727200-49729800	Weak transcription	K562	blood
12	chr10:49727400-49729400	Strong transcription	NHLF	lung
13	chr10:49727400-49729600	Weak transcription	Osteobl	bone
14	chr10:49727400-49730200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:49727600-49729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:49727800-49730000	Weak transcription	Brain Substantia Nigra	brain
17	chr10:49727800-49730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:49728000-49730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:49728000-49730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:49728200-49730200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:49728200-49731000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:49728400-49729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:49728400-49730000	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:49728400-49731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49728600-49729800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:49728600-49730200	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:49728800-49730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:49729000-49729600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:49729000-49729600	Weak transcription	NHDF-Ad	bronchial
30	chr10:49729000-49729800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr10:49729000-49730000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:49729000-49730600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:49729000-49731000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:49729000-49731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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