Variant report

Variant	rs10074873
Chromosome Location	chr5:43191823-43191824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:43191797-43192566	H1-hESC	embryonic stem cell:	n/a	chr5:43192150-43192160
2	TEAD4	chr5:43191723-43191967	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr5:43191801-43191998	GM12878	blood:	n/a	n/a
4	MXI1	chr5:43191620-43194505	SK-N-SH	brain:	n/a	chr5:43193906-43193921 chr5:43193904-43193919
5	POLR2A	chr5:43191784-43193105	H1-neurons	neurons:	n/a	n/a
6	BHLHE40	chr5:43191774-43192257	GM12878	blood:	n/a	n/a
7	PAX5	chr5:43191727-43192100	GM12878	blood:	n/a	n/a
8	MXI1	chr5:43191696-43194765	IMR90	lung:	n/a	chr5:43193906-43193921 chr5:43193904-43193919
9	RUNX3	chr5:43191760-43192064	GM12878	blood:	n/a	n/a
10	RELA	chr5:43191705-43192295	GM12891	blood:	n/a	n/a
11	MXI1	chr5:43191809-43192466	H1-hESC	embryonic stem cell:	n/a	n/a
12	EBF1	chr5:43191770-43192055	GM12878	blood:	n/a	n/a
13	TEAD4	chr5:43191668-43192056	H1-hESC	embryonic stem cell:	n/a	n/a
14	RELA	chr5:43191735-43192157	GM18951	blood:	n/a	n/a
15	SIN3A	chr5:43191680-43194305	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr5:43191672-43192540	H1-hESC	embryonic stem cell:	n/a	n/a
17	MTA3	chr5:43191655-43192150	GM12878	blood:	n/a	n/a
18	WRNIP1	chr5:43191803-43191829	GM12878	blood:	n/a	n/a
19	CTBP2	chr5:43191763-43193522	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43191118..43192645-chr5:43192728..43194544,2	K562	blood:

Variant related genes	Relation type
NIM1K	TF binding region
ENSG00000177453	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10041458	0.82[ASN][1000 genomes]
rs10044382	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10058350	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10058374	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10070751	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075647	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10076858	0.86[EUR][1000 genomes]
rs10078527	0.94[JPT][hapmap]
rs10214190	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805667	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941607	0.87[JPT][hapmap]
rs10941608	0.87[JPT][hapmap]
rs10941611	0.86[ASN][1000 genomes]
rs11550287	0.87[JPT][hapmap]
rs11740797	0.94[JPT][hapmap]
rs11748187	0.94[JPT][hapmap]
rs13173064	0.87[JPT][hapmap]
rs13176429	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13665	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532330	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532331	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17301375	0.94[JPT][hapmap]
rs316398	0.81[JPT][hapmap]
rs316405	0.94[JPT][hapmap]
rs316411	0.94[JPT][hapmap]
rs33910990	0.93[ASN][1000 genomes]
rs35953019	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3733839	0.94[JPT][hapmap]
rs4498259	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479996	0.87[ASN][1000 genomes]
rs4866808	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866971	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs511340	0.82[ASN][1000 genomes]
rs541143	0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs6414900	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]
rs6451672	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6451674	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451675	0.88[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670206	0.94[JPT][hapmap]
rs67913249	0.83[ASN][1000 genomes]
rs6862639	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864955	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6870418	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6871636	0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6876746	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6884303	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6894506	0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7701510	0.83[CHD][hapmap];0.81[JPT][hapmap]
rs7709181	0.94[JPT][hapmap]
rs7712046	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723426	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7729529	0.94[JPT][hapmap]
rs7730004	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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
rs10074873	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:43175400-43192200	Weak transcription	HSMM	muscle
3	chr5:43176800-43192200	Weak transcription	HSMMtube	muscle
4	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
5	chr5:43190200-43193200	Enhancers	Fetal Heart	heart
6	chr5:43191000-43193800	Active TSS	Brain Cingulate Gyrus	brain
7	chr5:43191000-43194200	Active TSS	Brain Anterior Caudate	brain
8	chr5:43191200-43192000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:43191200-43192000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:43191200-43192000	Enhancers	Stomach Mucosa	stomach
11	chr5:43191200-43194200	Active TSS	NHDF-Ad	bronchial
12	chr5:43191200-43194400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:43191200-43194800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:43191400-43192000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr5:43191400-43192000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr5:43191600-43192000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr5:43191600-43192000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr5:43191600-43192000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:43191600-43192000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr5:43191600-43192000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:43191600-43192000	Enhancers	Fetal Brain Male	brain
22	chr5:43191600-43192000	Flanking Active TSS	Fetal Brain Female	brain
23	chr5:43191600-43192000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr5:43191600-43192200	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr5:43191600-43192200	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:43191600-43192200	Flanking Active TSS	HepG2	liver
27	chr5:43191600-43192400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr5:43191600-43193200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr5:43191600-43193600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:43191600-43193800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr5:43191600-43193800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:43191600-43194000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:43191600-43194000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr5:43191600-43194600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:43191600-43194800	Active TSS	Brain Angular Gyrus	brain
36	chr5:43191800-43192000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:43191800-43192000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:43191800-43192000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:43191800-43192000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:43191800-43192000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:43191800-43192000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:43191800-43192000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:43191800-43192000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:43191800-43192000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr5:43191800-43192000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
46	chr5:43191800-43192000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
47	chr5:43191800-43192000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:43191800-43192000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:43191800-43192000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:43191800-43192000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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