Variant report

Variant	rs74098033
Chromosome Location	chr12:62862446-62862447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62859264..62862504-chr12:62994446..62997723,4	K562	blood:
2	chr12:62859326..62863326-chr12:62876630..62881311,5	K562	blood:
3	chr12:62652867..62655436-chr12:62859516..62862606,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257354	Chromatin interaction
ENSG00000257568	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction
ENSG00000221949	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17098035	0.87[AFR][1000 genomes]
rs17126063	1.00[AMR][1000 genomes]
rs17126100	1.00[AMR][1000 genomes]
rs17126124	1.00[AMR][1000 genomes]
rs56079604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529824	1.00[AMR][1000 genomes]
rs59103242	1.00[AMR][1000 genomes]
rs60606440	1.00[AMR][1000 genomes]
rs61035483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295871	1.00[AMR][1000 genomes]
rs7302924	0.93[AFR][1000 genomes]
rs7306450	0.93[AFR][1000 genomes]
rs74094271	1.00[AMR][1000 genomes]
rs74095730	1.00[AMR][1000 genomes]
rs74095743	1.00[AMR][1000 genomes]
rs74095811	0.87[AFR][1000 genomes]
rs74095819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095833	1.00[AMR][1000 genomes]
rs74098031	0.93[AFR][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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62859400-62862600	Active TSS	Duodenum Mucosa	Duodenum
2	chr12:62859400-62863600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:62859600-62862600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:62859600-62862600	Active TSS	Fetal Intestine Large	intestine
5	chr12:62859600-62862600	Active TSS	Ovary	ovary
6	chr12:62859600-62862600	Active TSS	NH-A	brain
7	chr12:62859600-62863000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:62859600-62863200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:62859600-62863200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:62859800-62862600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:62859800-62862600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:62859800-62862600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:62859800-62862600	Active TSS	Right Atrium	heart
14	chr12:62859800-62862600	Active TSS	NHDF-Ad	bronchial
15	chr12:62859800-62862800	Active TSS	Pancreas	Pancrea
16	chr12:62859800-62862800	Active TSS	K562	blood
17	chr12:62859800-62863000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:62859800-62863000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:62859800-62863400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:62860000-62862600	Active TSS	A549	lung
21	chr12:62860000-62862600	Active TSS	Hela-S3	cervix
22	chr12:62860000-62863000	Active TSS	HSMM	muscle
23	chr12:62860000-62863000	Active TSS	NHLF	lung
24	chr12:62860000-62863200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:62860000-62863600	Active TSS	GM12878-XiMat	blood
26	chr12:62860200-62862800	Active TSS	HMEC	breast
27	chr12:62860400-62862600	Active TSS	Osteobl	bone
28	chr12:62861000-62862600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:62861000-62863200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:62861200-62862600	Active TSS	Brain Germinal Matrix	brain
31	chr12:62861200-62863200	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr12:62861200-62863200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:62861400-62862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:62861400-62862800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:62861400-62862800	Weak transcription	Spleen	Spleen
36	chr12:62861400-62862800	Flanking Active TSS	HUVEC	blood vessel
37	chr12:62861400-62863000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:62861400-62863200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr12:62861400-62863400	Flanking Active TSS	Dnd41	blood
40	chr12:62861600-62862600	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:62861600-62862800	Weak transcription	Esophagus	oesophagus
42	chr12:62861600-62862800	Weak transcription	Lung	lung
43	chr12:62861600-62862800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:62861600-62863200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:62861600-62864800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:62861600-62865800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:62861600-62866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:62861800-62862600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:62861800-62862600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:62861800-62862600	Enhancers	Adipose Nuclei	Adipose

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