Variant report

Variant	rs2126577
Chromosome Location	chr1:226486332-226486333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226483884..226487010-chr1:226494990..226498279,4	K562	blood:
2	chr1:226484134..226486775-chr1:226489854..226492078,2	MCF-7	breast:
3	chr1:226483787..226486483-chr1:226492204..226494854,3	K562	blood:
4	chr1:226482044..226487010-chr1:226494990..226499067,6	K562	blood:
5	chr1:226484905..226486607-chr1:226488348..226490521,2	K562	blood:

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000238545	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10127753	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10127776	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10127970	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10753416	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10799341	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10799343	0.87[EUR][1000 genomes]
rs10799344	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10799346	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10799347	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915964	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10915970	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1219658	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1417766	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1813323	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2126573	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2126578	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2169567	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2254723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377026	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2377028	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2377029	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2615799	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2615803	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2666429	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2889537	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2927338	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4418563	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4612598	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61836914	0.81[ASN][1000 genomes]
rs6605032	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7552015	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9725097	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9729447	0.82[AMR][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	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
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2126577	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226415800-226495400	Weak transcription	Liver	Liver
2	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
5	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
10	chr1:226456600-226496000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:226457000-226495600	Weak transcription	Fetal Kidney	kidney
12	chr1:226457200-226495600	Weak transcription	NHDF-Ad	bronchial
13	chr1:226457200-226495600	Weak transcription	NHLF	lung
14	chr1:226457400-226495800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:226460800-226496000	Weak transcription	Gastric	stomach
16	chr1:226460800-226496000	Weak transcription	Pancreas	Pancrea
17	chr1:226461200-226496200	Weak transcription	Aorta	Aorta
18	chr1:226467800-226496000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:226468600-226495600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:226469600-226495800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:226470000-226489400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:226471000-226496000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:226471800-226490800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:226472400-226495400	Weak transcription	NH-A	brain
25	chr1:226472600-226496000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:226473000-226495800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:226474600-226495400	Weak transcription	HSMM	muscle
28	chr1:226474800-226496200	Weak transcription	Small Intestine	intestine
29	chr1:226475000-226488800	Weak transcription	Fetal Heart	heart
30	chr1:226475000-226493400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:226475400-226495400	Weak transcription	HMEC	breast
32	chr1:226476200-226491800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:226477400-226494800	Weak transcription	HepG2	liver
34	chr1:226478000-226489400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:226478200-226486800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:226478600-226486600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:226478600-226488000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:226478800-226486800	Strong transcription	Fetal Thymus	thymus
39	chr1:226479000-226495400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:226479000-226495800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:226479000-226495800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:226479400-226489000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:226479800-226488200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:226480000-226486600	Strong transcription	Left Ventricle	heart
45	chr1:226480000-226495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:226480200-226486600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:226480200-226488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:226480200-226496000	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:226480400-226486600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:226480400-226486800	Strong transcription	Monocytes-CD14+_RO01746	blood

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