Variant report

Variant	rs11748187
Chromosome Location	chr5:43078166-43078167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43076850..43080824-chr5:43095095..43097959,3	K562	blood:
2	chr5:43077895..43080643-chr5:43081043..43085199,4	MCF-7	breast:
3	chr5:43015196..43017902-chr5:43077071..43078758,2	K562	blood:
4	chr5:43074312..43077357-chr5:43077925..43083201,8	K562	blood:
5	chr5:43073926..43078603-chr5:43119856..43123275,4	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10058374	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10074873	0.94[JPT][hapmap]
rs10075647	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs10078527	0.84[JPT][hapmap]
rs1032434	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454865	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10805667	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10941607	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11550285	0.92[ASN][1000 genomes]
rs11550286	0.93[ASN][1000 genomes]
rs11550287	0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs11740797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs11742691	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743246	0.80[ASN][1000 genomes]
rs11750239	0.81[ASN][1000 genomes]
rs11949817	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954543	0.80[ASN][1000 genomes]
rs11956243	0.93[ASN][1000 genomes]
rs12109075	0.80[CHB][hapmap]
rs12188691	0.85[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs13155513	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159703	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13165504	0.82[ASN][1000 genomes]
rs13169563	0.98[ASN][1000 genomes]
rs13173064	0.92[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs13665	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs1532331	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs17301375	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2452831	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316398	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs316405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316409	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316410	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316411	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs316418	0.95[ASN][1000 genomes]
rs3207358	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087147	0.80[ASN][1000 genomes]
rs34315422	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34492794	0.80[ASN][1000 genomes]
rs34670023	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34808919	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859360	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35085573	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35541316	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35953019	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs36039989	0.93[ASN][1000 genomes]
rs36083302	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3733839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797312	0.80[ASN][1000 genomes]
rs3849698	0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs3849699	0.85[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs4498259	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs493097	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504404	0.88[ASN][1000 genomes]
rs541143	0.94[JPT][hapmap]
rs56169202	0.82[ASN][1000 genomes]
rs581914	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367685	0.95[ASN][1000 genomes]
rs62367688	0.96[ASN][1000 genomes]
rs62372869	0.80[ASN][1000 genomes]
rs6414900	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6451674	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6451675	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs670206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6862639	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6864223	0.93[ASN][1000 genomes]
rs6871636	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs6884303	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs6894506	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7701510	0.82[CHB][hapmap]
rs7709181	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7729529	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7730004	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs9790935	0.82[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	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11748187	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43068600-43082600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:43069000-43081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:43069400-43082800	Weak transcription	Colonic Mucosa	Colon
4	chr5:43069400-43087400	Weak transcription	Stomach Mucosa	stomach
5	chr5:43069600-43080400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr5:43069600-43080400	Strong transcription	Fetal Muscle Leg	muscle
7	chr5:43070000-43105400	Weak transcription	HSMMtube	muscle
8	chr5:43071400-43084400	Weak transcription	Fetal Kidney	kidney
9	chr5:43071600-43079000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:43071600-43079000	Weak transcription	NH-A	brain
11	chr5:43071600-43080800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:43071600-43083800	Weak transcription	HepG2	liver
13	chr5:43071600-43084200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:43071800-43079000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:43071800-43079600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:43071800-43080000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:43071800-43080000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:43071800-43080200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:43071800-43080200	Weak transcription	Gastric	stomach
20	chr5:43071800-43081400	Weak transcription	Fetal Brain Male	brain
21	chr5:43071800-43081800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:43071800-43081800	Weak transcription	Hela-S3	cervix
23	chr5:43071800-43082000	Weak transcription	HMEC	breast
24	chr5:43071800-43082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:43071800-43083000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:43071800-43084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:43071800-43091000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:43071800-43091600	Weak transcription	Ovary	ovary
29	chr5:43071800-43096000	Weak transcription	Aorta	Aorta
30	chr5:43071800-43098400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:43071800-43101600	Weak transcription	Esophagus	oesophagus
32	chr5:43071800-43105400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:43072000-43079800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:43072000-43080600	Weak transcription	Brain Substantia Nigra	brain
35	chr5:43072000-43081800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:43072400-43104200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:43073000-43080400	Weak transcription	HSMM	muscle
38	chr5:43073400-43079800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:43073400-43080400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:43074000-43078600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:43074000-43082600	Strong transcription	Fetal Thymus	thymus
42	chr5:43074400-43082400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:43074800-43082200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:43075000-43078400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:43075000-43078600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:43075000-43081400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:43075200-43081600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:43075400-43080000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:43075400-43082600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:43075400-43084400	Weak transcription	Fetal Lung	lung

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