Variant report

Variant	rs3845411
Chromosome Location	chr1:180891619-180891620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180469860..180472607-chr1:180890916..180893412,2	K562	blood:
2	chr1:180889227..180893527-chr1:180894947..180897442,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction
ENSG00000135835	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10914134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2331901	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3845412	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001918	chr1:180886750-180908005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180882400-180894600	Weak transcription	Pancreas	Pancrea
2	chr1:180882600-180894000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:180882800-180892600	Weak transcription	Esophagus	oesophagus
4	chr1:180882800-180894400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:180883000-180892200	Weak transcription	Brain Germinal Matrix	brain
6	chr1:180883000-180894600	Weak transcription	Right Ventricle	heart
7	chr1:180883000-180894800	Weak transcription	Colonic Mucosa	Colon
8	chr1:180883200-180892200	Weak transcription	Right Atrium	heart
9	chr1:180883200-180894200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:180883400-180892600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:180883600-180891800	Weak transcription	HSMM	muscle
12	chr1:180883600-180892000	Weak transcription	Fetal Heart	heart
13	chr1:180883600-180892200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:180883600-180894200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:180883600-180894200	Weak transcription	Fetal Lung	lung
16	chr1:180883600-180894800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:180883600-180895000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:180885800-180895000	Weak transcription	NHLF	lung
19	chr1:180886000-180911000	Enhancers	Fetal Thymus	thymus
20	chr1:180886600-180892000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:180887200-180892000	Weak transcription	NHDF-Ad	bronchial
22	chr1:180887400-180893000	Strong transcription	Fetal Stomach	stomach
23	chr1:180887600-180915800	Weak transcription	Osteobl	bone
24	chr1:180887800-180892000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:180887800-180892400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:180888200-180892000	Weak transcription	K562	blood
27	chr1:180888200-180892400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:180888200-180894200	Weak transcription	Left Ventricle	heart
29	chr1:180888400-180892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:180888400-180892600	Weak transcription	Brain Anterior Caudate	brain
31	chr1:180888400-180894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:180888400-180897600	Weak transcription	Aorta	Aorta
33	chr1:180888600-180891800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:180888600-180917200	Weak transcription	Gastric	stomach
35	chr1:180888800-180892000	Weak transcription	Fetal Intestine Large	intestine
36	chr1:180888800-180892200	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:180888800-180892200	Weak transcription	Lung	lung
38	chr1:180889000-180891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:180889200-180892600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:180889200-180894800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:180889600-180892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:180889600-180892000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:180889800-180892200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:180890400-180895600	Enhancers	Thymus	Thymus
45	chr1:180890400-180898200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:180890600-180891800	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr1:180890600-180892600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:180890600-180892600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:180890600-180892800	Enhancers	GM12878-XiMat	blood
50	chr1:180890600-180893400	Strong transcription	Ovary	ovary

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