Variant report

Variant	rs6414900
Chromosome Location	chr5:43126528-43126529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43118961..43124216-chr5:43126476..43129492,5	MCF-7	breast:
2	chr5:43124778..43127199-chr5:43415095..43418069,2	K562	blood:
3	chr5:43126484..43129150-chr5:43135547..43138439,2	K562	blood:
4	chr5:43064780..43067998-chr5:43126441..43129166,3	K562	blood:
5	chr5:43126484..43128286-chr5:43135547..43137953,2	K562	blood:
6	chr5:43126006..43127965-chr5:43130887..43133408,2	K562	blood:

Variant related genes	Relation type
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10044382	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10058350	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058374	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070751	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10074873	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10075647	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10076858	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10078527	0.82[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs10214190	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10805667	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941607	0.87[JPT][hapmap]
rs10941608	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs10941611	0.86[ASN][1000 genomes]
rs11550287	0.87[JPT][hapmap]
rs11740797	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11748187	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12109075	0.85[YRI][hapmap]
rs12188691	0.87[JPT][hapmap]
rs13173064	0.87[JPT][hapmap]
rs13176429	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13665	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532330	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1532331	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17301375	0.94[JPT][hapmap]
rs316398	0.81[JPT][hapmap]
rs316405	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs316411	0.94[JPT][hapmap]
rs33910990	0.89[ASN][1000 genomes]
rs35953019	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs3733839	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs3849698	0.87[JPT][hapmap]
rs3849699	0.87[JPT][hapmap]
rs4498259	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479996	0.91[ASN][1000 genomes]
rs4866808	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866971	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511340	0.86[ASN][1000 genomes]
rs541143	0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs6451672	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6451674	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451675	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs670206	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6862639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864955	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6870418	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6871636	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6876746	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6884303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894506	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7701510	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs7709181	0.94[JPT][hapmap]
rs7712046	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723426	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7729529	0.94[JPT][hapmap]
rs7730004	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6414900	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43129200	Weak transcription	Gastric	stomach
2	chr5:43122600-43131200	Weak transcription	Esophagus	oesophagus
3	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
4	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:43122800-43127400	Weak transcription	Ovary	ovary
7	chr5:43122800-43128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
9	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
11	chr5:43123000-43126600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:43123000-43132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:43123400-43127800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:43123400-43129600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:43123600-43130000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:43123800-43126800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:43123800-43127400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:43123800-43129400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr5:43123800-43129600	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr5:43123800-43132000	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:43124000-43127200	Weak transcription	Brain Angular Gyrus	brain
23	chr5:43124000-43128400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:43124000-43128400	Strong transcription	Fetal Lung	lung
25	chr5:43124000-43128600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr5:43124000-43128800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:43124000-43129000	Strong transcription	NH-A	brain
28	chr5:43124000-43129800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:43124000-43129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:43124000-43129800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:43124000-43130400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr5:43124000-43130600	Strong transcription	HSMM	muscle
33	chr5:43124000-43130800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
37	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
38	chr5:43124200-43126800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:43124200-43128400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:43124200-43128400	Strong transcription	Fetal Kidney	kidney
41	chr5:43124200-43129800	Strong transcription	Placenta	Placenta
42	chr5:43124200-43130000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:43124200-43133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:43124200-43137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
47	chr5:43124400-43126600	Strong transcription	NHEK	skin
48	chr5:43124400-43126800	Genic enhancers	Hela-S3	cervix
49	chr5:43124400-43127400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:43124400-43128400	Strong transcription	A549	lung

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