Variant report

Variant	rs2377029
Chromosome Location	chr1:226419166-226419167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226409596..226411863-chr1:226416372..226419605,3	K562	blood:
2	chr1:226310413..226312487-chr1:226416947..226420256,3	K562	blood:

Variant related genes	Relation type
ENSG00000185155	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10127753	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10127776	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10127970	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10753416	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10799341	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10799343	0.85[EUR][1000 genomes]
rs10799344	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10799346	0.88[EUR][1000 genomes]
rs10799347	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10915962	0.91[EUR][1000 genomes]
rs10915964	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10915970	0.86[EUR][1000 genomes]
rs1219658	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1417766	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1813323	0.83[EUR][1000 genomes]
rs2126573	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126577	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2126578	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2169567	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2254723	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2377026	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2377028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615799	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2615803	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2666429	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2889537	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2927338	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4612598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6605032	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7552015	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9725097	0.84[EUR][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2377029	ACBD3	Cis_1M	lymphoblastoid	RTeQTL
rs2377029	ENSG00000183814	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226424200	Weak transcription	Psoas Muscle	Psoas
2	chr1:226412000-226426200	Weak transcription	Lung	lung
3	chr1:226412000-226427600	Weak transcription	Spleen	Spleen
4	chr1:226412000-226428000	Weak transcription	Pancreas	Pancrea
5	chr1:226412000-226429400	Weak transcription	Gastric	stomach
6	chr1:226412000-226431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:226412000-226449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:226412000-226455400	Weak transcription	Ovary	ovary
9	chr1:226412000-226456200	Weak transcription	NH-A	brain
10	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
11	chr1:226412200-226424000	Weak transcription	NHEK	skin
12	chr1:226412200-226424400	Weak transcription	A549	lung
13	chr1:226412200-226424400	Weak transcription	HMEC	breast
14	chr1:226412200-226425800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:226412200-226426000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:226412200-226428000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:226412200-226437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:226412200-226448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:226412400-226424400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:226412400-226435600	Weak transcription	Hela-S3	cervix
23	chr1:226412400-226442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:226412400-226443000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:226412400-226443000	Weak transcription	Osteobl	bone
26	chr1:226412400-226446800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:226412800-226421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:226413000-226445000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:226413000-226448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:226413200-226424400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
32	chr1:226413400-226419800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:226413600-226424400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:226413600-226429200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:226413600-226440600	Weak transcription	Thymus	Thymus
36	chr1:226413600-226447000	Weak transcription	Brain Germinal Matrix	brain
37	chr1:226413600-226447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:226413800-226420000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:226413800-226423200	Weak transcription	Fetal Lung	lung
40	chr1:226413800-226424400	Weak transcription	Fetal Intestine Small	intestine
41	chr1:226414000-226424200	Weak transcription	Fetal Brain Female	brain
42	chr1:226414000-226424400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:226414000-226428600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:226414000-226436600	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
46	chr1:226414200-226421000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:226414200-226424400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:226414200-226447200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:226414200-226454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:226414400-226423600	Weak transcription	Fetal Brain Male	brain

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