Variant report

Variant	rs1175628
Chromosome Location	chr1:112965930-112965931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1175624	1.00[AFR][1000 genomes]
rs1175627	0.87[AFR][1000 genomes]
rs1175637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175639	0.80[AFR][1000 genomes]
rs1175640	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175643	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175644	0.87[AFR][1000 genomes]
rs1759691	0.87[AFR][1000 genomes]
rs1777621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483347	0.96[AFR][1000 genomes]
rs2780274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2798246	0.84[AFR][1000 genomes];1.00[AMR][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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
2	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
3	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
4	chr1:112945000-112966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:112946800-112970600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:112947200-112971200	Weak transcription	Aorta	Aorta
7	chr1:112947200-112981000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:112949200-112966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:112951200-112969000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:112951600-112968800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:112952000-112969600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:112952400-112990600	Weak transcription	Esophagus	oesophagus
13	chr1:112952600-112981400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:112953800-112966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:112954400-112967400	Strong transcription	Osteobl	bone
16	chr1:112957400-112986600	Weak transcription	NHLF	lung
17	chr1:112957600-112967400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
19	chr1:112958200-112967600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:112958600-112971000	Weak transcription	Right Ventricle	heart
21	chr1:112958600-112979000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:112959600-112973200	Weak transcription	Lung	lung
23	chr1:112959600-112991600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:112959800-112972000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:112959800-112973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:112959800-112992800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:112960000-112967600	Weak transcription	Colonic Mucosa	Colon
28	chr1:112960000-112968200	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:112960000-112972200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:112960000-112972800	Weak transcription	Left Ventricle	heart
31	chr1:112960000-112973200	Weak transcription	Ovary	ovary
32	chr1:112960000-112974200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:112960000-112980800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:112960000-112981600	Weak transcription	Liver	Liver
35	chr1:112960000-112995200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:112960200-112966000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:112960200-112968000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:112960200-112978200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:112960200-112979000	Weak transcription	GM12878-XiMat	blood
41	chr1:112960200-112981200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:112960200-112991600	Weak transcription	Hela-S3	cervix
43	chr1:112960400-112966400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:112960400-112991400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:112960600-112968000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:112960600-112968200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:112961200-112995600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:112961400-112979000	Weak transcription	Brain Angular Gyrus	brain
49	chr1:112961400-112980600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:112961600-112966800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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