Variant report

Variant	rs4632347
Chromosome Location	chr2:112822084-112822085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112812985..112814670-chr2:112820639..112822288,2	K562	blood:
2	chr2:112728900..112731202-chr2:112820823..112823636,2	K562	blood:
3	chr2:112820549..112822093-chr2:112840179..112842837,2	K562	blood:
4	chr2:112815166..112819031-chr2:112819758..112824247,10	K562	blood:
5	chr2:112819853..112822775-chr2:113032254..113034954,2	K562	blood:
6	chr2:112822054..112823664-chr2:112839537..112842253,2	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10169022	0.82[JPT][hapmap]
rs10176769	0.91[JPT][hapmap]
rs10192728	0.81[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs10194496	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123109	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11692445	0.81[JPT][hapmap]
rs13001162	0.82[JPT][hapmap]
rs4575728	0.80[ASN][1000 genomes]
rs4848971	0.82[JPT][hapmap]
rs4848973	0.82[JPT][hapmap]
rs4848979	0.91[JPT][hapmap]
rs4848980	0.90[JPT][hapmap]
rs66990408	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6722814	0.91[JPT][hapmap]
rs6748256	1.00[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.99[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4632347	IL1F10	cis	parietal	SCAN
rs4632347	TMEM87B	cis	parietal	SCAN
rs4632347	FBLN7	cis	parietal	SCAN
rs4632347	MERTK	cis	multi-tissue	Pritchard
rs4632347	BCL2L11	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
2	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:112814800-112823800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:112814800-112832200	Weak transcription	A549	lung
10	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
11	chr2:112815000-112824000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:112815200-112822200	Weak transcription	Pancreas	Pancrea
13	chr2:112815200-112823200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:112815200-112823600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:112815200-112823600	Weak transcription	Fetal Brain Male	brain
16	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
17	chr2:112815800-112822600	Strong transcription	HSMM	muscle
18	chr2:112816000-112825000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:112816000-112833800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:112816400-112822200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:112816400-112823000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:112816400-112827200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:112816400-112829600	Strong transcription	Placenta	Placenta
24	chr2:112816600-112822200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:112816600-112825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:112816600-112834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:112816800-112823200	Strong transcription	Osteobl	bone
29	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:112817000-112827000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:112817000-112827400	Strong transcription	Fetal Stomach	stomach
32	chr2:112817000-112830200	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:112817200-112822600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:112817200-112822800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:112817200-112823000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:112817200-112823000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:112817200-112823400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:112817200-112824800	Weak transcription	Stomach Mucosa	stomach
39	chr2:112817200-112825200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:112817400-112824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:112817400-112827800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:112817400-112835400	Weak transcription	Esophagus	oesophagus
43	chr2:112817400-112835400	Weak transcription	Right Ventricle	heart
44	chr2:112817600-112824000	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr2:112818000-112822600	Strong transcription	NHDF-Ad	bronchial
46	chr2:112818200-112829800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:112818400-112822400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:112818400-112822400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr2:112818400-112827200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:112818600-112827400	Strong transcription	Stomach Smooth Muscle	stomach

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