Variant report

Variant	rs156101
Chromosome Location	chr5:179325710-179325711
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179323028..179325776-chr5:179336197..179338772,2	K562	blood:
2	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
3	chr5:179320875..179323234-chr5:179323469..179326347,2	MCF-7	breast:
4	chr5:179247432..179249386-chr5:179323355..179325915,2	K562	blood:

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs152233	0.84[EUR][1000 genomes]
rs155791	0.85[EUR][1000 genomes]
rs155795	0.82[EUR][1000 genomes]
rs156104	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1684973	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2431123	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2431124	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2434411	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248218	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248219	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248222	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs248232	0.80[AMR][1000 genomes]
rs248252	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs26075	0.80[EUR][1000 genomes]
rs26078	0.84[EUR][1000 genomes]
rs27410	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27411	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27471	0.83[AMR][1000 genomes]
rs28325	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs30381	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs30382	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs30385	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs32437	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs32438	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs32471	0.84[EUR][1000 genomes]
rs32472	0.84[EUR][1000 genomes]
rs3734003	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs43155	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs532795	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs574997	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs578659	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs860706	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs88183	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9957	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
6	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
7	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs156101	CTC-241N9.1	cis	Nerve Tibial	GTEx
rs156101	TBC1D9B	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
3	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179309200-179327200	Strong transcription	Brain Angular Gyrus	brain
5	chr5:179309800-179326400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:179310200-179327400	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr5:179310400-179326800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:179310400-179332000	Strong transcription	Fetal Intestine Large	intestine
9	chr5:179310600-179326800	Strong transcription	Brain Substantia Nigra	brain
10	chr5:179310600-179327400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:179310800-179327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:179310800-179331400	Strong transcription	Primary T cells from cord blood	blood
13	chr5:179311000-179326800	Strong transcription	Brain Cingulate Gyrus	brain
14	chr5:179311000-179326800	Strong transcription	Brain Hippocampus Middle	brain
15	chr5:179311000-179328200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr5:179311000-179332000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr5:179311000-179332600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:179311200-179328200	Strong transcription	Osteobl	bone
19	chr5:179311200-179332000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:179311200-179332000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:179311400-179327400	Strong transcription	Fetal Thymus	thymus
22	chr5:179311400-179332000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr5:179311400-179332400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:179311600-179332000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:179311600-179332000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:179311600-179332200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:179311600-179332200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:179311800-179326800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:179311800-179326800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr5:179311800-179327000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:179311800-179332000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:179311800-179332200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:179312000-179327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:179312000-179329400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:179312000-179331800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:179312000-179332000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:179312000-179332000	Strong transcription	Fetal Brain Female	brain
39	chr5:179312000-179332400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:179312000-179333000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:179312000-179333400	Weak transcription	Fetal Brain Male	brain
42	chr5:179312200-179326000	Weak transcription	Fetal Heart	heart
43	chr5:179312200-179326800	Strong transcription	Fetal Muscle Leg	muscle
44	chr5:179312200-179329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:179312200-179332400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:179312200-179333200	Strong transcription	Placenta	Placenta
47	chr5:179312400-179329200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:179312800-179331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:179312800-179333400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:179313000-179332400	Strong transcription	Fetal Intestine Small	intestine

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