Variant report

Variant	rs348188
Chromosome Location	chr1:155653291-155653292
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155653141-155653338	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
2	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
3	chr1:155289269..155291447-chr1:155651172..155653383,2	K562	blood:
4	chr1:155646146..155649318-chr1:155651514..155653615,3	MCF-7	breast:
5	chr1:155648026..155650983-chr1:155651432..155653542,3	K562	blood:
6	chr1:155652988..155656346-chr1:155657323..155660504,4	MCF-7	breast:

No data

Variant related genes	Relation type
DAP3	TF binding region
YY1AP1	TF binding region
ENSG00000160752	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000160753	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10796951	0.94[AFR][1000 genomes]
rs10796952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802649	0.81[AMR][1000 genomes]
rs12136836	0.91[AFR][1000 genomes]
rs1625821	0.89[AMR][1000 genomes]
rs1627630	0.89[AMR][1000 genomes]
rs168343	0.89[AMR][1000 genomes]
rs171168	0.89[AMR][1000 genomes]
rs1749412	0.89[AMR][1000 genomes]
rs1749413	0.89[AMR][1000 genomes]
rs1749414	0.89[AMR][1000 genomes]
rs1749420	0.89[AMR][1000 genomes]
rs1749422	0.89[AMR][1000 genomes]
rs1756242	0.89[AMR][1000 genomes]
rs182979	0.81[AMR][1000 genomes]
rs1886618	0.89[AMR][1000 genomes]
rs2136920	0.89[AMR][1000 genomes]
rs2175389	0.89[AMR][1000 genomes]
rs2363017	0.89[AMR][1000 genomes]
rs2485472	0.89[AMR][1000 genomes]
rs2666828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2885676	0.89[AMR][1000 genomes]
rs348184	0.89[AMR][1000 genomes]
rs348189	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348190	0.81[AMR][1000 genomes]
rs348191	0.89[AMR][1000 genomes]
rs348194	0.81[AMR][1000 genomes]
rs348197	0.89[AMR][1000 genomes]
rs348199	0.89[AMR][1000 genomes]
rs348200	0.89[AMR][1000 genomes]
rs348207	0.89[AMR][1000 genomes]
rs348208	0.89[AMR][1000 genomes]
rs348209	0.89[AMR][1000 genomes]
rs35264557	1.00[AMR][1000 genomes]
rs4581273	0.89[AMR][1000 genomes]
rs4601579	0.80[AFR][1000 genomes]
rs4638121	0.88[AFR][1000 genomes]
rs485353	0.82[AFR][1000 genomes]
rs492669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4971057	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4971058	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512551	0.89[AMR][1000 genomes]
rs540380	0.89[AMR][1000 genomes]
rs568672	0.89[AMR][1000 genomes]
rs606755	0.89[AMR][1000 genomes]
rs607036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427281	0.88[AFR][1000 genomes]
rs6427282	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6688399	0.89[AMR][1000 genomes]
rs670787	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs683121	0.81[AMR][1000 genomes]
rs708607	0.89[AMR][1000 genomes]
rs708609	0.89[AMR][1000 genomes]
rs7522259	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7540642	0.86[AFR][1000 genomes]
rs7543447	0.80[AFR][1000 genomes]
rs8179457	0.89[AMR][1000 genomes]
rs822013	0.89[AMR][1000 genomes]
rs822014	0.89[AMR][1000 genomes]
rs822017	0.89[AMR][1000 genomes]
rs822021	0.89[AMR][1000 genomes]
rs822023	0.89[AMR][1000 genomes]
rs822024	0.89[AMR][1000 genomes]
rs822027	0.89[AMR][1000 genomes]
rs822479	0.89[AMR][1000 genomes]
rs822481	0.89[AMR][1000 genomes]
rs822483	0.89[AMR][1000 genomes]
rs822485	0.89[AMR][1000 genomes]
rs822492	0.89[AMR][1000 genomes]
rs822498	0.89[AMR][1000 genomes]
rs822522	0.89[AMR][1000 genomes]
rs866603	0.89[AMR][1000 genomes]
rs9426928	0.90[AFR][1000 genomes]
rs9427219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427221	0.81[AMR][1000 genomes]
rs9427222	0.89[AMR][1000 genomes]
rs9427227	0.89[AMR][1000 genomes]
rs9427229	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155627000-155657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155627200-155654000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:155627600-155653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:155628000-155653800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:155628000-155654600	Strong transcription	Fetal Thymus	thymus
6	chr1:155632800-155656200	Weak transcription	Stomach Mucosa	stomach
7	chr1:155634600-155657800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:155640000-155653600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:155644400-155653400	Strong transcription	K562	blood
10	chr1:155645000-155656200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:155645200-155657200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:155645400-155655600	Weak transcription	Psoas Muscle	Psoas
13	chr1:155645600-155653600	Weak transcription	Right Ventricle	heart
14	chr1:155646000-155653600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:155646000-155655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:155646200-155654200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:155646600-155653600	Weak transcription	Esophagus	oesophagus
18	chr1:155646600-155653600	Weak transcription	Gastric	stomach
19	chr1:155646600-155655600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:155646600-155656000	Weak transcription	Lung	lung
21	chr1:155646600-155657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:155647000-155653800	Weak transcription	Ovary	ovary
23	chr1:155647200-155653800	Weak transcription	Pancreas	Pancrea
24	chr1:155647400-155656200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:155648200-155656200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:155648600-155656400	Weak transcription	Fetal Kidney	kidney
27	chr1:155648600-155657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:155648800-155654200	Strong transcription	Fetal Stomach	stomach
29	chr1:155648800-155654800	Strong transcription	Fetal Intestine Small	intestine
30	chr1:155648800-155656200	Weak transcription	NHDF-Ad	bronchial
31	chr1:155649400-155653400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:155649600-155653600	Weak transcription	HMEC	breast
33	chr1:155649600-155655200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:155649600-155656200	Weak transcription	HSMMtube	muscle
35	chr1:155649600-155656200	Weak transcription	NH-A	brain
36	chr1:155649800-155653600	Weak transcription	Brain Anterior Caudate	brain
37	chr1:155649800-155655400	Weak transcription	Osteobl	bone
38	chr1:155649800-155656000	Weak transcription	HUVEC	blood vessel
39	chr1:155650000-155653600	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:155650000-155657400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:155650000-155657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:155650200-155654000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:155650200-155655400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:155650200-155656200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:155650200-155656400	Weak transcription	HSMM	muscle
46	chr1:155650200-155656800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:155650200-155657400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:155650400-155653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:155650400-155653800	Weak transcription	Fetal Brain Male	brain
50	chr1:155650400-155655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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