Variant report

Variant	rs10911611
Chromosome Location	chr1:184537821-184537822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16823336	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs16823340	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs16823344	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs17255321	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1832552	0.87[ASN][1000 genomes]
rs2207521	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs55699645	0.98[ASN][1000 genomes]
rs60220474	0.89[ASN][1000 genomes]
rs7520438	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7520700	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528356	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10911611	RGSL1	cis	parietal	SCAN
rs10911611	C1orf125	cis	parietal	SCAN
rs10911611	RNASEL	cis	parietal	SCAN

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:184520800-184542000	Weak transcription	Ovary	ovary
4	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:184525600-184544000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:184525600-184545600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:184531000-184543800	Weak transcription	Esophagus	oesophagus
9	chr1:184531400-184543200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:184531800-184540600	Weak transcription	Right Ventricle	heart
11	chr1:184531800-184543800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:184532200-184540600	Weak transcription	Fetal Lung	lung
13	chr1:184532400-184545800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:184532600-184543600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:184532600-184545600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:184533000-184543800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:184533200-184547400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:184535200-184538400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:184535200-184538600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:184535600-184538400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:184536000-184542200	Weak transcription	Fetal Stomach	stomach
22	chr1:184536000-184543400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:184536000-184545600	Weak transcription	Left Ventricle	heart
24	chr1:184536000-184559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:184536000-184559000	Weak transcription	NHEK	skin
26	chr1:184536200-184539000	Enhancers	Fetal Intestine Large	intestine
27	chr1:184536200-184549200	Weak transcription	NHDF-Ad	bronchial
28	chr1:184536400-184538800	Enhancers	Fetal Intestine Small	intestine
29	chr1:184536600-184538400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:184536600-184545600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:184536800-184542400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:184536800-184543600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:184536800-184545000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:184536800-184559200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:184537200-184538000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:184537200-184538200	Weak transcription	HSMMtube	muscle
37	chr1:184537200-184543200	Weak transcription	Psoas Muscle	Psoas
38	chr1:184537200-184543600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:184537200-184545800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:184537200-184559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:184537400-184538600	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:184537400-184539800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:184537600-184538200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:184537600-184538400	Flanking Active TSS	Liver	Liver
45	chr1:184537600-184538400	Enhancers	Right Atrium	heart
46	chr1:184537800-184538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:184537800-184538200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:184537800-184538200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:184537800-184538400	Enhancers	Small Intestine	intestine
50	chr1:184537800-184538600	Enhancers	Duodenum Smooth Muscle	Duodenum

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