Variant report

Variant	rs4755374
Chromosome Location	chr11:34486604-34486605
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34393782..34397128-chr11:34486521..34490392,3	K562	blood:
2	chr11:34485197..34487373-chr11:34489814..34492260,2	K562	blood:
3	chr11:34437235..34439770-chr11:34486159..34487859,2	K562	blood:
4	chr11:34469619..34471124-chr11:34484849..34487654,2	K562	blood:
5	chr11:34468515..34471124-chr11:34484849..34487654,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1000768	0.82[CHB][hapmap]
rs1033509	0.88[ASN][1000 genomes]
rs10488737	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1071880	1.00[YRI][hapmap]
rs10742316	0.88[ASN][1000 genomes]
rs10836244	0.96[GIH][hapmap]
rs12421999	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16925614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16925662	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16925668	0.87[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16925673	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16925678	0.87[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2076556	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs208675	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs208677	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs208680	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs208681	1.00[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs208682	1.00[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs208683	1.00[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2231819	0.81[EUR][1000 genomes]
rs2284368	0.96[GIH][hapmap]
rs2284369	0.96[GIH][hapmap]
rs2300182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420388	0.96[GIH][hapmap]
rs2746169	0.88[ASN][1000 genomes]
rs3758732	1.00[CEU][hapmap]
rs3758735	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758736	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758737	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758738	0.82[EUR][1000 genomes]
rs4756146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756151	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4756155	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4756156	0.87[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs489554	0.95[ASN][1000 genomes]
rs5026711	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs55633825	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55665450	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55941777	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56291727	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs564250	0.93[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs7102889	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104121	0.82[EUR][1000 genomes]
rs7104394	0.80[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs7106485	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7109462	0.87[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7109778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115064	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126085	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126243	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7130331	0.85[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7130345	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72923163	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72924903	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72924928	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72927347	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72927368	0.82[EUR][1000 genomes]
rs72927369	0.82[EUR][1000 genomes]
rs7395059	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs769218	0.96[GIH][hapmap]
rs7928060	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7928866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7935626	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7938373	0.86[CEU][hapmap];0.80[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs942222	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4755374	CAT	cis	parietal	SCAN
rs4755374	CAT	cis	Whole Blood	GTEx
rs4755374	PISD	trans	parietal	SCAN
rs4755374	C11orf74	cis	cerebellum	SCAN
rs4755374	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs4755374	CAT	cis	cerebellum	SCAN
rs4755374	TRAF6	cis	parietal	SCAN
rs4755374	CAT	cis	lymphoblastoid	seeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34469800-34487400	Strong transcription	Hela-S3	cervix
2	chr11:34470400-34487400	Strong transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:34470800-34488000	Strong transcription	Brain Hippocampus Middle	brain
4	chr11:34470800-34488000	Strong transcription	Fetal Intestine Large	intestine
5	chr11:34470800-34494200	Strong transcription	Brain Germinal Matrix	brain
6	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
7	chr11:34471000-34487200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr11:34471000-34487400	Strong transcription	Osteobl	bone
9	chr11:34471000-34494000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr11:34471200-34487000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:34471400-34487000	Strong transcription	Thymus	Thymus
12	chr11:34471400-34487200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:34471400-34487200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:34471400-34487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:34471400-34487400	Strong transcription	Ovary	ovary
16	chr11:34471400-34487400	Strong transcription	Dnd41	blood
17	chr11:34471400-34487400	Strong transcription	HSMM	muscle
18	chr11:34471400-34487600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:34471400-34487800	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:34471400-34488000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:34471400-34488000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:34471400-34494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:34471400-34494600	Strong transcription	Placenta	Placenta
24	chr11:34471400-34495000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:34471600-34487200	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:34471600-34487800	Strong transcription	HSMMtube	muscle
28	chr11:34471600-34488000	Strong transcription	Fetal Thymus	thymus
29	chr11:34471600-34495200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:34473200-34487200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:34473600-34488000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:34474000-34487800	Strong transcription	Lung	lung
34	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:34474800-34487200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:34476200-34495200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:34477200-34495200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:34477400-34487000	Strong transcription	Fetal Intestine Small	intestine
39	chr11:34477600-34486800	Strong transcription	Fetal Stomach	stomach
40	chr11:34477600-34487400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:34477600-34487400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:34477600-34487800	Strong transcription	Brain Substantia Nigra	brain
43	chr11:34477600-34487800	Strong transcription	Spleen	Spleen
44	chr11:34477800-34488400	Strong transcription	Brain Anterior Caudate	brain
45	chr11:34478200-34492800	Strong transcription	Rectal Smooth Muscle	rectum
46	chr11:34478600-34487200	Weak transcription	Fetal Heart	heart
47	chr11:34479800-34487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:34480200-34487200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:34480400-34487400	Weak transcription	NHEK	skin
50	chr11:34481400-34487000	Strong transcription	Pancreas	Pancrea

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