Variant report

Variant	rs9724673
Chromosome Location	chr1:226356218-226356219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226356179..226357804-chr1:226359489..226362150,3	K562	blood:
2	chr1:226355519..226358833-chr1:226364229..226365851,3	MCF-7	breast:
3	chr1:226260259..226262161-chr1:226354959..226356498,2	K562	blood:
4	chr1:226356179..226357747-chr1:226359489..226362150,2	K562	blood:
5	chr1:226354790..226356919-chr1:226372358..226374762,4	MCF-7	breast:

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]
rs10915949	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]
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];0.85[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];0.98[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];0.98[ASN][1000 genomes]
rs4653720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.98[ASN][1000 genomes]
rs67776609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.95[ASN][1000 genomes]
rs9725951	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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
rs9724673	ACBD3	cis	normal skin	skin_eQTL
rs9724673	ACBD3	cis	uninvolved skin	skin_eQTL
rs9724673	ACBD3	Cis_1M	lymphoblastoid	RTeQTL
rs9724673	DNAH14	cis	cerebellum	SCAN
rs9724673	ACBD3	cis	lesional skin	skin_eQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:226347000-226369600	Weak transcription	Psoas Muscle	Psoas
5	chr1:226348800-226365200	Weak transcription	NHEK	skin
6	chr1:226349000-226366400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226349400-226369200	Weak transcription	Fetal Heart	heart
9	chr1:226349800-226366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:226350000-226363200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:226350600-226363800	Weak transcription	Aorta	Aorta
14	chr1:226350600-226369000	Weak transcription	Hela-S3	cervix
15	chr1:226350800-226369600	Weak transcription	Right Ventricle	heart
16	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:226351200-226360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
19	chr1:226352400-226363200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:226352400-226365200	Weak transcription	HMEC	breast
21	chr1:226352400-226368200	Weak transcription	HSMM	muscle
22	chr1:226352600-226358400	Weak transcription	Gastric	stomach
23	chr1:226352600-226360000	Weak transcription	K562	blood
24	chr1:226352600-226360200	Weak transcription	Small Intestine	intestine
25	chr1:226352600-226360400	Weak transcription	Pancreas	Pancrea
26	chr1:226352600-226360400	Weak transcription	Spleen	Spleen
27	chr1:226352600-226365200	Weak transcription	A549	lung
28	chr1:226352600-226369200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:226352600-226370000	Weak transcription	Fetal Brain Female	brain
30	chr1:226352600-226370400	Weak transcription	Brain Angular Gyrus	brain
31	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
33	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
36	chr1:226352800-226365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
38	chr1:226353000-226359800	Weak transcription	GM12878-XiMat	blood
39	chr1:226353000-226360000	Weak transcription	Lung	lung
40	chr1:226353000-226363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:226353000-226369400	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:226353000-226369600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:226353000-226370200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:226353200-226360400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:226353200-226365000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:226353200-226365600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:226353200-226369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
50	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain

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