Variant report

Variant	rs1219671
Chromosome Location	chr1:226319520-226319521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226318646..226321534-chr1:226372342..226374842,4	MCF-7	breast:
2	chr1:226318378..226321338-chr1:226323384..226325455,2	MCF-7	breast:
3	chr1:226319376..226322100-chr1:226332829..226335844,3	MCF-7	breast:
4	chr1:226319191..226321532-chr1:226326059..226327998,3	MCF-7	breast:
5	chr1:226316368..226319027-chr1:226319079..226321600,2	K562	blood:
6	chr1:226274104..226276144-chr1:226317532..226320270,3	K562	blood:
7	chr1:226296024..226297911-chr1:226318078..226320711,2	MCF-7	breast:
8	chr1:226250695..226253410-chr1:226318302..226321025,2	K562	blood:
9	chr1:226308628..226313084-chr1:226318396..226322185,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234478	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10915954	0.82[CHD][hapmap]
rs11577282	0.90[JPT][hapmap]
rs12069333	0.90[ASN][1000 genomes]
rs1877153	0.94[ASN][1000 genomes]
rs1877155	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1877156	0.86[ASN][1000 genomes]
rs3892709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9728310	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1219671	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310600-226319800	Weak transcription	Right Ventricle	heart
3	chr1:226310600-226322400	Weak transcription	Right Atrium	heart
4	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:226312800-226321000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:226313000-226323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:226313400-226322000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:226313400-226322600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:226315600-226322600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:226315800-226320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:226316000-226320200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:226316000-226320600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:226316000-226322000	Enhancers	Primary B cells from cord blood	blood
14	chr1:226316000-226324000	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:226316200-226320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:226316600-226320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:226316600-226320000	Weak transcription	Colonic Mucosa	Colon
18	chr1:226316600-226320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:226316600-226322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:226316800-226320400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:226316800-226320400	Weak transcription	Pancreas	Pancrea
22	chr1:226316800-226320400	Weak transcription	HMEC	breast
23	chr1:226316800-226320400	Weak transcription	NHEK	skin
24	chr1:226316800-226320600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:226316800-226323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:226317000-226319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:226317000-226319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:226317000-226320000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:226317000-226320000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:226317000-226320000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:226317000-226320400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:226317000-226320400	Weak transcription	HSMM	muscle
33	chr1:226317000-226320600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:226317000-226322200	Weak transcription	Fetal Heart	heart
35	chr1:226317200-226319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:226317200-226320600	Weak transcription	HSMMtube	muscle
37	chr1:226317200-226331200	Weak transcription	Placenta	Placenta
38	chr1:226317800-226319800	Weak transcription	HepG2	liver
39	chr1:226318600-226331600	Weak transcription	NH-A	brain
40	chr1:226318800-226320800	Enhancers	K562	blood
41	chr1:226319400-226319600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:226319400-226319600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:226319400-226320600	Enhancers	Esophagus	oesophagus
44	chr1:226319400-226320800	Enhancers	Stomach Mucosa	stomach
45	chr1:226319400-226321400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:226319400-226321400	Enhancers	GM12878-XiMat	blood
47	chr1:226319400-226324200	Enhancers	Gastric	stomach

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