Variant report

Variant	rs4756148
Chromosome Location	chr11:34487197-34487198
allele	C/T
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: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10836244	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408035	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284365	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284368	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284369	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2420388	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758733	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3781711	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4755372	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755373	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4756153	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs554576	0.83[ASN][1000 genomes]
rs6484722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113917	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769217	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769218	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7928213	0.89[ASN][1000 genomes]
rs942223	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4756148	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs4756148	CAT	cis	Artery Tibial	GTEx
rs4756148	CAT	cis	Whole Blood	GTEx

Chromatin state (count:108 , 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	chr11:34471400-34487200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:34471400-34487200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:34471400-34487400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:34471400-34487400	Strong transcription	Ovary	ovary
14	chr11:34471400-34487400	Strong transcription	Dnd41	blood
15	chr11:34471400-34487400	Strong transcription	HSMM	muscle
16	chr11:34471400-34487600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:34471400-34487800	Strong transcription	Colon Smooth Muscle	Colon
18	chr11:34471400-34488000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:34471400-34488000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:34471400-34494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:34471400-34494600	Strong transcription	Placenta	Placenta
22	chr11:34471400-34495000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:34471600-34487200	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:34471600-34487800	Strong transcription	HSMMtube	muscle
26	chr11:34471600-34488000	Strong transcription	Fetal Thymus	thymus
27	chr11:34471600-34495200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:34473200-34487200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:34473600-34488000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:34474000-34487800	Strong transcription	Lung	lung
32	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:34474800-34487200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:34476200-34495200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:34477200-34495200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:34477600-34487400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:34477600-34487400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:34477600-34487800	Strong transcription	Brain Substantia Nigra	brain
39	chr11:34477600-34487800	Strong transcription	Spleen	Spleen
40	chr11:34477800-34488400	Strong transcription	Brain Anterior Caudate	brain
41	chr11:34478200-34492800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr11:34478600-34487200	Weak transcription	Fetal Heart	heart
43	chr11:34479800-34487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:34480200-34487200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:34480400-34487400	Weak transcription	NHEK	skin
46	chr11:34481600-34487400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:34481600-34488000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:34481800-34488200	Strong transcription	Left Ventricle	heart
49	chr11:34482400-34487200	Strong transcription	Fetal Lung	lung
50	chr11:34482400-34494200	Strong transcription	Primary T cells fromperipheralblood	blood

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