Variant report

Variant	rs10127776
Chromosome Location	chr1:226474479-226474480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226473672..226479904-chr1:226493578..226497887,7	K562	blood:
2	chr1:226249763..226251316-chr1:226473149..226474908,2	MCF-7	breast:
3	chr1:226464969..226471191-chr1:226471370..226476817,8	K562	blood:
4	chr1:226458655..226460444-chr1:226472837..226474997,2	K562	blood:
5	chr1:226466295..226469274-chr1:226471370..226476261,5	K562	blood:

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10127753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10127970	0.95[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10753416	0.95[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10799341	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10799343	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10799344	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10799346	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10799347	0.91[CEU][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915962	0.81[EUR][1000 genomes]
rs10915964	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915970	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1219658	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs1417766	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17263666	0.93[ASW][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap]
rs1813323	0.86[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2126573	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2126577	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2126578	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2169567	0.95[CEU][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2254723	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2377026	0.91[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2377028	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2377029	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2615799	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2615803	0.95[CEU][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2666429	0.91[CEU][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2889537	0.95[CEU][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2927338	0.85[EUR][1000 genomes]
rs4418563	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4612598	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6605032	0.95[CEU][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7552015	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9725097	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9729447	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1825303	chr1:226458998-226481551	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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
rs10127776	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:226415800-226495400	Weak transcription	Liver	Liver
4	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
6	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
8	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:226451200-226474600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:226451200-226481000	Weak transcription	Fetal Brain Female	brain
16	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226451800-226480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:226452000-226481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
20	chr1:226452800-226482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:226453400-226478200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:226453400-226484600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:226455000-226486000	Weak transcription	Spleen	Spleen
24	chr1:226456600-226483800	Weak transcription	Ovary	ovary
25	chr1:226456600-226484000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:226456600-226496000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:226456800-226483200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:226457000-226495600	Weak transcription	Fetal Kidney	kidney
29	chr1:226457200-226483600	Weak transcription	GM12878-XiMat	blood
30	chr1:226457200-226495600	Weak transcription	NHDF-Ad	bronchial
31	chr1:226457200-226495600	Weak transcription	NHLF	lung
32	chr1:226457400-226477000	Weak transcription	HepG2	liver
33	chr1:226457400-226483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:226457400-226495800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:226457600-226474600	Weak transcription	HMEC	breast
36	chr1:226460800-226496000	Weak transcription	Gastric	stomach
37	chr1:226460800-226496000	Weak transcription	Pancreas	Pancrea
38	chr1:226461000-226485800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:226461200-226481400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:226461200-226496200	Weak transcription	Aorta	Aorta
41	chr1:226461400-226481400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:226465800-226482400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:226465800-226483200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:226467800-226496000	Weak transcription	Brain Substantia Nigra	brain
45	chr1:226468600-226495600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:226469200-226484000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:226469600-226475200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:226469600-226475800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:226469600-226495800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:226469800-226475800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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