Variant report

Variant	rs13417112
Chromosome Location	chr2:180130906-180130907
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	chr2:180127590..180133149-chr2:180134052..180141026,12	MCF-7	breast:
2	chr2:180129872..180132234-chr2:180132866..180134594,2	K562	blood:

Variant related genes	Relation type
ENSG00000237477	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10173853	1.00[AMR][1000 genomes]
rs10176828	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178559	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186707	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207754	1.00[AMR][1000 genomes]
rs10208882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209875	1.00[ASN][1000 genomes]
rs10221811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12611473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12612427	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12613089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12616452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12618724	0.90[ASN][1000 genomes]
rs12622434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387502	0.90[ASN][1000 genomes]
rs13391187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394908	1.00[AMR][1000 genomes]
rs13395559	1.00[AMR][1000 genomes]
rs13408774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13412820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424092	0.89[ASN][1000 genomes]
rs13429191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16866630	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28508327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35041512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7581898	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7601965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180129800-180132000	Enhancers	Fetal Heart	heart
2	chr2:180130000-180131000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:180130000-180131000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:180130000-180131000	Enhancers	Hela-S3	cervix
5	chr2:180130000-180131200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:180130000-180132600	Weak transcription	Placenta	Placenta
7	chr2:180130000-180132800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:180130000-180133000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:180130000-180135200	Weak transcription	Brain Angular Gyrus	brain
10	chr2:180130000-180137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:180130000-180138000	Weak transcription	Gastric	stomach
12	chr2:180130000-180138200	Weak transcription	Aorta	Aorta
13	chr2:180130000-180141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:180130000-180141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:180130200-180131000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:180130200-180131800	Enhancers	HepG2	liver
17	chr2:180130200-180132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:180130200-180132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:180130200-180133000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:180130200-180133000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:180130200-180133000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:180130200-180133000	Weak transcription	A549	lung
23	chr2:180130200-180133000	Weak transcription	NHDF-Ad	bronchial
24	chr2:180130200-180133200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:180130200-180136200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:180130200-180137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:180130200-180137200	Weak transcription	NH-A	brain
28	chr2:180130400-180131000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:180130400-180131000	Weak transcription	HSMM	muscle
30	chr2:180130400-180131200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:180130400-180132600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:180130400-180132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:180130400-180132600	Weak transcription	GM12878-XiMat	blood
34	chr2:180130400-180132600	Weak transcription	NHEK	skin
35	chr2:180130400-180132800	Weak transcription	HMEC	breast
36	chr2:180130400-180132800	Weak transcription	HUVEC	blood vessel
37	chr2:180130400-180133000	Weak transcription	Brain Substantia Nigra	brain
38	chr2:180130400-180133200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:180130400-180136000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:180130400-180137400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:180130400-180138400	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:180130400-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:180130600-180131200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:180130600-180132600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:180130600-180132800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:180130600-180133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:180130600-180138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:180130800-180131000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:180130800-180132600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:180130800-180132600	Weak transcription	Monocytes-CD14+_RO01746	blood

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