Variant report

Variant	rs12130818
Chromosome Location	chr1:46127367-46127368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46117210..46121553-chr1:46125649..46128637,4	K562	blood:
2	chr1:46126286..46130719-chr1:46131581..46134748,5	K562	blood:
3	chr1:46125283..46126845-chr1:46126852..46128792,2	K562	blood:

Variant related genes	Relation type
ENSG00000159592	Chromatin interaction
ENSG00000234329	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17410308	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12130818	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs12130818	LOC126661	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:46087600-46129200	Strong transcription	Fetal Thymus	thymus
3	chr1:46088600-46127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46091200-46128200	Strong transcription	Dnd41	blood
5	chr1:46098400-46133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:46100200-46135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:46106200-46140000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:46113200-46128000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:46113800-46133400	Weak transcription	Right Atrium	heart
10	chr1:46114000-46127400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:46114000-46129200	Strong transcription	Primary B cells from cord blood	blood
12	chr1:46114600-46127600	Strong transcription	Hela-S3	cervix
13	chr1:46120600-46128000	Weak transcription	Fetal Heart	heart
14	chr1:46121000-46135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:46123400-46134000	Weak transcription	Gastric	stomach
16	chr1:46124400-46135000	Weak transcription	A549	lung
17	chr1:46124800-46128400	Weak transcription	Psoas Muscle	Psoas
18	chr1:46124800-46132400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:46124800-46144600	Weak transcription	Aorta	Aorta
20	chr1:46125000-46148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:46125200-46133200	Weak transcription	Stomach Mucosa	stomach
22	chr1:46125200-46135000	Weak transcription	NH-A	brain
23	chr1:46125200-46151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:46125400-46135800	Weak transcription	Fetal Brain Male	brain
25	chr1:46125400-46140000	Weak transcription	NHEK	skin
26	chr1:46125600-46127600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:46125600-46134800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:46125800-46127800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:46125800-46132400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:46126000-46129600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:46126000-46132200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:46126000-46132200	Weak transcription	HSMMtube	muscle
33	chr1:46126000-46132400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:46126000-46133000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:46126000-46133200	Weak transcription	Brain Substantia Nigra	brain
36	chr1:46126000-46133200	Weak transcription	Spleen	Spleen
37	chr1:46126000-46133400	Weak transcription	Lung	lung
38	chr1:46126000-46133400	Weak transcription	Pancreas	Pancrea
39	chr1:46126000-46134800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:46126000-46135000	Weak transcription	Right Ventricle	heart
41	chr1:46126000-46137000	Weak transcription	Esophagus	oesophagus
42	chr1:46126000-46143000	Weak transcription	Fetal Lung	lung
43	chr1:46126000-46143800	Weak transcription	Fetal Brain Female	brain
44	chr1:46126000-46144200	Weak transcription	Brain Germinal Matrix	brain
45	chr1:46126000-46145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:46126000-46147200	Weak transcription	Thymus	Thymus
47	chr1:46126000-46149000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:46126000-46151000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:46126200-46127800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:46126200-46128200	Weak transcription	Left Ventricle	heart

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