Variant report

Variant	rs10915949
Chromosome Location	chr1:226339764-226339765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226338462..226340650-chr1:226371216..226373411,2	K562	blood:
2	chr1:226338792..226340351-chr1:226353525..226355664,2	K562	blood:
3	chr1:226338792..226340771-chr1:226341760..226343637,2	K562	blood:
4	chr1:226336915..226339836-chr1:226348415..226349970,2	K562	blood:

Variant related genes	Relation type
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10915954	0.81[MKK][hapmap]
rs12140038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306120	1.00[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs2377023	0.82[AMR][1000 genomes]
rs2889536	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4638085	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67776609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9662958	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9724673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9725951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10915949	ACBD3	cis	normal skin	skin_eQTL
rs10915949	ACBD3	cis	lesional skin	skin_eQTL
rs10915949	ACBD3	cis	uninvolved skin	skin_eQTL
rs10915949	DNAH14	cis	cerebellum	SCAN
rs10915949	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323200-226344600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:226323600-226339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226323600-226339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226323600-226346000	Weak transcription	Fetal Heart	heart
5	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:226324000-226339800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:226324000-226340000	Weak transcription	Stomach Mucosa	stomach
8	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:226324400-226339800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:226324400-226346200	Weak transcription	Pancreas	Pancrea
11	chr1:226329600-226353800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:226330000-226341000	Weak transcription	Psoas Muscle	Psoas
13	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:226331000-226341600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:226331000-226353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:226331000-226353800	Strong transcription	Adipose Nuclei	Adipose
18	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:226331200-226342400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:226331200-226342600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:226331600-226340000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:226331600-226342200	Strong transcription	Osteobl	bone
24	chr1:226331600-226342400	Strong transcription	Primary B cells from cord blood	blood
25	chr1:226331600-226342600	Strong transcription	NH-A	brain
26	chr1:226331600-226342800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:226331600-226342800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:226331600-226342800	Strong transcription	Fetal Lung	lung
29	chr1:226331600-226343000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:226331600-226346200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:226331600-226353600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:226331600-226353800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:226331600-226354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:226331600-226355600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:226331800-226342600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:226331800-226342800	Strong transcription	HepG2	liver
37	chr1:226331800-226353800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:226331800-226353800	Strong transcription	Liver	Liver
39	chr1:226332200-226346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:226333600-226342600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:226333600-226342800	Strong transcription	Fetal Thymus	thymus
43	chr1:226333600-226343200	Strong transcription	Fetal Intestine Large	intestine
44	chr1:226333800-226339800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:226333800-226342800	Strong transcription	Primary T cells from cord blood	blood
46	chr1:226333800-226343000	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:226333800-226343200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:226333800-226354400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:226334000-226342600	Strong transcription	K562	blood
50	chr1:226334200-226342600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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