Variant report

Variant	rs2130526
Chromosome Location	chr1:151880870-151880871
allele	A/G
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151879069..151881570-chr1:151943407..151945574,2	K562	blood:
3	chr1:151761461..151764001-chr1:151879304..151881821,2	K562	blood:
4	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
5	chr1:151878724..151881573-chr1:151882113..151884102,2	MCF-7	breast:
6	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
7	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
8	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
9	chr1:151842661..151844582-chr1:151879754..151881730,2	K562	blood:
10	chr1:151879353..151883785-chr1:152005989..152009719,8	K562	blood:
11	chr1:151879656..151883388-chr1:152007614..152010954,7	K562	blood:
12	chr1:151856579..151858762-chr1:151880024..151881671,2	MCF-7	breast:
13	chr1:151822270..151824943-chr1:151880171..151881846,2	MCF-7	breast:
14	chr1:151861954..151864936-chr1:151880646..151882539,4	MCF-7	breast:
15	chr1:151880725..151882299-chr1:151990398..151992995,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-12	chr1:151880530-151881159	expReg_chr1_16747_+

No data

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction
ENSG00000240667	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000196407	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1003107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158030	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1038746	0.87[AFR][1000 genomes]
rs1038748	0.87[AFR][1000 genomes]
rs1048910	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749666	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10788813	0.86[EUR][1000 genomes]
rs10788814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10788816	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888448	0.85[AMR][1000 genomes]
rs10888449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888450	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10888451	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10888453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204905	0.95[AMR][1000 genomes]
rs11204911	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11204912	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1352654	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1387834	0.87[AFR][1000 genomes]
rs1473493	0.87[AFR][1000 genomes]
rs1473494	0.87[AFR][1000 genomes]
rs1473495	0.87[AFR][1000 genomes]
rs1490187	0.90[EUR][1000 genomes]
rs1490190	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1552605	0.87[AFR][1000 genomes]
rs1552606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1552607	0.87[AFR][1000 genomes]
rs1602245	0.87[AFR][1000 genomes]
rs17583707	0.85[ASN][1000 genomes]
rs1826170	0.87[AFR][1000 genomes]
rs1826171	0.87[AFR][1000 genomes]
rs1826172	0.84[AFR][1000 genomes]
rs1844542	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1873310	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1873311	0.87[AFR][1000 genomes]
rs1873312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054948	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087549	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2171917	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2338018	0.87[AFR][1000 genomes]
rs2338200	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2338203	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2338204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2338210	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2932563	0.87[AFR][1000 genomes]
rs2932564	0.82[AFR][1000 genomes]
rs2932578	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2932588	0.87[AFR][1000 genomes]
rs2932591	0.87[AFR][1000 genomes]
rs2932592	0.87[AFR][1000 genomes]
rs2932595	0.87[AFR][1000 genomes]
rs2932596	0.87[AFR][1000 genomes]
rs2932597	0.87[AFR][1000 genomes]
rs2999514	0.87[AFR][1000 genomes]
rs2999515	0.82[AFR][1000 genomes]
rs2999518	0.87[AFR][1000 genomes]
rs2999520	0.87[AFR][1000 genomes]
rs2999522	0.82[AFR][1000 genomes]
rs2999524	0.87[AFR][1000 genomes]
rs2999525	0.87[AFR][1000 genomes]
rs2999527	0.87[AFR][1000 genomes]
rs2999529	0.87[AFR][1000 genomes]
rs2999558	0.87[AFR][1000 genomes]
rs3007682	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3007699	0.87[AFR][1000 genomes]
rs3007700	0.87[AFR][1000 genomes]
rs3007701	0.87[AFR][1000 genomes]
rs3748805	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551598	0.88[EUR][1000 genomes]
rs4845385	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4845388	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845660	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4845664	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4845699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61113720	0.85[ASN][1000 genomes]
rs6587626	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587627	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6587628	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587630	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6659029	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6662463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678664	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6685291	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6690443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704157	0.81[AFR][1000 genomes]
rs7529451	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7532721	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7541498	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7544380	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7545863	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7552869	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs902314	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs902315	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs902316	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs971888	0.87[AFR][1000 genomes]
rs9943225	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2130526	THEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
3	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:151876600-151881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:151877600-151881000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr1:151878200-151881000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr1:151878200-151881200	Weak transcription	Fetal Heart	heart
8	chr1:151878400-151881000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr1:151878400-151881000	ZNF genes & repeats	Placenta	Placenta
10	chr1:151878600-151881000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:151878800-151881000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:151878800-151881000	ZNF genes & repeats	Thymus	Thymus
13	chr1:151879000-151881600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:151879200-151881000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:151879200-151881000	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr1:151879400-151881400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:151879600-151881000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr1:151879600-151881000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr1:151879600-151881000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr1:151879600-151881000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr1:151879600-151881000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:151879600-151881000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:151879600-151881000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr1:151879600-151881000	ZNF genes & repeats	A549	lung
25	chr1:151879600-151881000	ZNF genes & repeats	GM12878-XiMat	blood
26	chr1:151879600-151881000	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr1:151879800-151881000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:151879800-151881000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr1:151879800-151881000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr1:151879800-151881000	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr1:151879800-151881000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr1:151879800-151881000	ZNF genes & repeats	K562	blood
33	chr1:151879800-151881600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:151880200-151881000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:151880200-151881000	ZNF genes & repeats	Lung	lung
36	chr1:151880200-151881400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151880200-151881600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:151880200-151882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:151880400-151881000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:151880400-151881000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:151880400-151881000	ZNF genes & repeats	Brain Angular Gyrus	brain
42	chr1:151880400-151881000	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr1:151880400-151881000	Enhancers	Pancreas	Pancrea
44	chr1:151880400-151881200	Enhancers	Colon Smooth Muscle	Colon
45	chr1:151880400-151881200	Enhancers	Right Ventricle	heart
46	chr1:151880400-151883000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:151880600-151881000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:151880600-151881000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:151880600-151881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:151880600-151881200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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