Variant report

Variant	rs4074979
Chromosome Location	chr11:673637-673638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:672942..674593-chr11:692394..694687,2	K562	blood:

Variant related genes	Relation type
ENSG00000177030	Chromatin interaction
ENSG00000177106	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10751661	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10902189	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10902194	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11246240	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11246241	0.83[ASN][1000 genomes]
rs11246244	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11246248	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11246267	0.82[ASN][1000 genomes]
rs11822917	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366210	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12575488	0.86[ASN][1000 genomes]
rs28594998	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074376	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4331145	0.85[CHB][hapmap]
rs4963172	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6598000	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6598001	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6598002	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598005	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102376	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116535	0.80[ASN][1000 genomes]
rs7116631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7118095	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7121608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7123677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7126455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7128243	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73407113	0.82[ASN][1000 genomes]
rs73407114	0.82[ASN][1000 genomes]
rs73407117	0.82[ASN][1000 genomes]
rs752306	0.92[CHB][hapmap]
rs7925122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925259	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927761	0.98[ASN][1000 genomes]
rs7930365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933080	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7937061	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941038	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943527	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948371	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7949932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951023	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9734266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046476	chr11:205983-911945	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
2	nsv896478	chr11:350917-888632	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
3	nsv896479	chr11:350917-934594	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
4	nsv896487	chr11:353757-888632	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv896506	chr11:378188-715420	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
6	nsv469923	chr11:378188-1323564	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	248 gene(s)	inside rSNPs	diseases
7	nsv896511	chr11:385442-715420	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
8	esv2758250	chr11:409846-1357392	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
9	esv2759794	chr11:409846-1357392	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
10	nsv1053964	chr11:491334-692433	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
11	nsv896545	chr11:521302-710558	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	129 gene(s)	inside rSNPs	diseases
12	nsv896551	chr11:551405-888632	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
13	nsv1053653	chr11:553925-697511	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	123 gene(s)	inside rSNPs	diseases
14	nsv540879	chr11:553925-697511	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	123 gene(s)	inside rSNPs	diseases
15	nsv896563	chr11:589564-888632	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
16	nsv896570	chr11:620599-715420	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv832043	chr11:631027-758602	Strong transcription Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv1049093	chr11:638768-884107	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
19	nsv540880	chr11:638768-884107	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
20	nsv552867	chr11:647869-688312	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv552868	chr11:648045-683403	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1051547	chr11:651993-766633	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
23	nsv1053342	chr11:653154-780756	Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
24	nsv540881	chr11:653154-780756	Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4074979	TMEM80	Cis_1M	lymphoblastoid	RTeQTL
rs4074979	TMEM80	cis	Nerve Tibial	GTEx
rs4074979	TMEM80	cis	multi-tissue	Pritchard
rs4074979	TMEM80	cis	lung	GTEx
rs4074979	TMEM80	cis	Adipose Subcutaneous	GTEx
rs4074979	TMEM80	cis	Artery Tibial	GTEx
rs4074979	TMEM80	cis	Cerebellum	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:639800-673800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:640800-680800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:641200-673800	Weak transcription	HUVEC	blood vessel
4	chr11:643000-673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:653000-691200	Weak transcription	Fetal Brain Male	brain
6	chr11:654000-676800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:659000-682200	Strong transcription	Fetal Intestine Small	intestine
8	chr11:659000-693400	Weak transcription	Stomach Mucosa	stomach
9	chr11:662000-693000	Weak transcription	Fetal Heart	heart
10	chr11:662400-683600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:665000-686400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:665000-689400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:665000-691600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:665200-691200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:666200-673800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:666200-679400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:666200-686600	Weak transcription	Psoas Muscle	Psoas
18	chr11:666200-693400	Weak transcription	Right Atrium	heart
19	chr11:666400-678000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:666400-678600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:666400-682200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:666400-682200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:666600-692000	Strong transcription	Fetal Stomach	stomach
24	chr11:668000-680000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:669200-691600	Strong transcription	Fetal Brain Female	brain
26	chr11:669200-692200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:669600-679600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:670000-674800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:670000-675200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:670000-677000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:670000-688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:670000-690400	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:670200-674800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:670400-683800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:670400-690800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:670600-691400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:671400-675200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:671400-675600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:671400-677000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:671400-680000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:671400-683800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:671400-690200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:671400-691200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr11:671400-691200	Strong transcription	Dnd41	blood
45	chr11:671600-674800	Strong transcription	Brain Germinal Matrix	brain
46	chr11:671600-674800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:671600-678600	Strong transcription	Liver	Liver
48	chr11:671600-682200	Strong transcription	Placenta	Placenta
49	chr11:671600-688800	Strong transcription	Fetal Thymus	thymus
50	chr11:671600-689600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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