Variant report

Variant	rs12401468
Chromosome Location	chr1:165802598-165802599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165801445..165804427-chr3:53618879..53621657,2	MCF-7	breast:
3	chr1:165795094..165800839-chr1:165801377..165807202,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224358	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10918267	0.83[AMR][1000 genomes]
rs10918280	0.83[AMR][1000 genomes]
rs10918282	0.83[AMR][1000 genomes]
rs10918286	1.00[AMR][1000 genomes]
rs12061566	1.00[AMR][1000 genomes]
rs12062594	1.00[AMR][1000 genomes]
rs12064088	0.83[AMR][1000 genomes]
rs12064187	0.83[AMR][1000 genomes]
rs12064466	1.00[AMR][1000 genomes]
rs12072636	0.83[AMR][1000 genomes]
rs12074976	0.83[AMR][1000 genomes]
rs12077778	0.83[AMR][1000 genomes]
rs12077875	0.83[AMR][1000 genomes]
rs12079073	0.83[AMR][1000 genomes]
rs12080238	0.83[AMR][1000 genomes]
rs12082722	0.83[AMR][1000 genomes]
rs12094467	0.83[AMR][1000 genomes]
rs28735603	0.83[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	nsv818544	chr1:165797966-165811729	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165798600-165811000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:165798800-165802600	Weak transcription	Ovary	ovary
3	chr1:165798800-165811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165798800-165811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:165798800-165811400	Weak transcription	Esophagus	oesophagus
6	chr1:165798800-165811800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:165798800-165814200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:165799000-165804000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:165799000-165805800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:165799000-165807600	Weak transcription	Fetal Lung	lung
11	chr1:165799000-165810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:165799000-165811000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:165799000-165811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:165799000-165811800	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:165799000-165811800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:165799000-165811800	Weak transcription	Fetal Stomach	stomach
17	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:165799200-165805800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:165799200-165805800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:165799200-165806600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:165799200-165811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:165799200-165811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:165799200-165811400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:165799200-165811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:165799400-165802600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:165799400-165802600	Weak transcription	NHLF	lung
28	chr1:165799400-165804000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:165799400-165805400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:165799400-165805800	Weak transcription	Small Intestine	intestine
31	chr1:165799400-165806000	Weak transcription	HSMMtube	muscle
32	chr1:165799400-165806000	Weak transcription	HUVEC	blood vessel
33	chr1:165799400-165806000	Weak transcription	Osteobl	bone
34	chr1:165799400-165806200	Weak transcription	Stomach Mucosa	stomach
35	chr1:165799400-165806800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:165799400-165810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:165799400-165810800	Weak transcription	NHEK	skin
38	chr1:165799400-165811000	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:165800600-165811600	Weak transcription	Fetal Brain Male	brain
40	chr1:165800800-165805800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:165801000-165805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:165801400-165802800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:165801400-165803000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:165801400-165804200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:165801400-165804400	Enhancers	A549	lung
46	chr1:165801600-165802600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:165801600-165802800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:165801600-165803000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:165801600-165803000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:165801800-165802600	Strong transcription	Fetal Intestine Small	intestine

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