Variant report

Variant	rs4561136
Chromosome Location	chr10:99446425-99446426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99441784..99444101-chr10:99445056..99446700,2	K562	blood:
2	chr10:99391497..99393437-chr10:99445445..99447604,2	MCF-7	breast:
3	chr10:99430156..99432704-chr10:99445440..99446999,2	MCF-7	breast:
4	chr1:59249262..59250025-chr10:99446124..99446966,2	Hela-S3	cervix:
5	chr10:99446206..99447050-chr15:99352591..99353091,2	HCT-116	colon:
6	chr10:99446145..99449629-chr10:99495749..99499452,3	K562	blood:
7	chr10:99446266..99448824-chr10:99470047..99473651,4	K562	blood:
8	chr10:99445750..99450066-chr10:99494053..99497713,5	MCF-7	breast:
9	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:
10	chr10:99446264..99449966-chr10:99495266..99498485,3	MCF-7	breast:
11	chr10:99442762..99448311-chr10:99470830..99475549,8	MCF-7	breast:
12	chr10:99446338..99447028-chr6:37137631..37138374,2	Hela-S3	cervix:
13	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000137193	Chromatin interaction
ENSG00000155254	Chromatin interaction
ENSG00000171160	Chromatin interaction
ENSG00000155256	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10882987	0.81[GIH][hapmap]
rs11189312	0.87[CHB][hapmap]
rs11189321	0.87[CHB][hapmap]
rs3818780	0.87[CHB][hapmap]
rs61863305	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1045292	chr10:99411153-99450861	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4561136	C10orf62	cis	cerebellum	SCAN
rs4561136	ZFYVE27	cis	cerebellum	SCAN
rs4561136	DHDPSL	cis	cerebellum	SCAN
rs4561136	AVPI1	cis	multi-tissue	Pritchard
rs4561136	FRAT2	cis	cerebellum	SCAN
rs4561136	AVPI1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99443200-99446600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:99443400-99446800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr10:99443800-99447400	Active TSS	Right Ventricle	heart
4	chr10:99444200-99447400	Active TSS	Fetal Intestine Large	intestine
5	chr10:99444600-99446600	Flanking Active TSS	Rectal Smooth Muscle	rectum
6	chr10:99444600-99447400	Active TSS	Right Atrium	heart
7	chr10:99444600-99447600	Active TSS	Esophagus	oesophagus
8	chr10:99444600-99448200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr10:99444800-99447400	Active TSS	Aorta	Aorta
10	chr10:99444800-99448400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:99445000-99446600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr10:99445000-99447600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:99445000-99447600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:99445200-99446600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr10:99445200-99446800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr10:99445200-99447400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:99445200-99447400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:99445200-99447400	Active TSS	HSMM	muscle
19	chr10:99445400-99447000	Active TSS	Gastric	stomach
20	chr10:99445400-99447400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:99445400-99447400	Active TSS	Hela-S3	cervix
22	chr10:99445400-99447600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:99445600-99447200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:99445600-99447400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:99445600-99447400	Active TSS	Lung	lung
26	chr10:99445600-99447400	Active TSS	Stomach Mucosa	stomach
27	chr10:99445600-99447400	Active TSS	A549	lung
28	chr10:99445600-99447400	Active TSS	NHDF-Ad	bronchial
29	chr10:99445600-99447400	Active TSS	NHEK	skin
30	chr10:99445600-99447600	Active TSS	Ovary	ovary
31	chr10:99445600-99447800	Active TSS	Psoas Muscle	Psoas
32	chr10:99445800-99446800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:99445800-99447400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:99445800-99447400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:99445800-99447400	Active TSS	NHLF	lung
36	chr10:99445800-99447600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:99446000-99446600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr10:99446000-99446600	Flanking Active TSS	Liver	Liver
39	chr10:99446000-99446600	Flanking Active TSS	Fetal Stomach	stomach
40	chr10:99446000-99446800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr10:99446000-99446800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:99446000-99446800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr10:99446000-99446800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr10:99446000-99446800	Flanking Active TSS	Fetal Lung	lung
45	chr10:99446000-99446800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr10:99446000-99446800	Bivalent/Poised TSS	HepG2	liver
47	chr10:99446000-99446800	Flanking Active TSS	K562	blood
48	chr10:99446000-99446800	Flanking Active TSS	NH-A	brain
49	chr10:99446000-99447000	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr10:99446000-99447000	Active TSS	Placenta Amnion	Placenta Amnion

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