Variant report

Variant	rs12618724
Chromosome Location	chr2:180124146-180124147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180116382..180118315-chr2:180123410..180126262,2	MCF-7	breast:
2	chr2:180122860..180124976-chr2:180127824..180130891,3	MCF-7	breast:
3	chr2:180115892..180117617-chr2:180123291..180126152,2	K562	blood:
4	chr2:180114550..180116150-chr2:180123274..180125911,2	MCF-7	breast:
5	chr2:180120526..180124742-chr2:180127021..180129947,5	K562	blood:

Variant related genes	Relation type
ENSG00000187231	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172589	0.85[ASN][1000 genomes]
rs10176828	0.85[ASN][1000 genomes]
rs10208882	0.85[ASN][1000 genomes]
rs10209875	0.90[ASN][1000 genomes]
rs10210749	0.81[ASN][1000 genomes]
rs10221811	0.85[ASN][1000 genomes]
rs12328593	0.85[ASN][1000 genomes]
rs12622434	0.85[ASN][1000 genomes]
rs13387502	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13391187	0.85[ASN][1000 genomes]
rs13395559	0.85[ASN][1000 genomes]
rs13408774	1.00[ASN][1000 genomes]
rs13412820	0.81[ASN][1000 genomes]
rs13417112	0.90[ASN][1000 genomes]
rs13422693	0.85[ASN][1000 genomes]
rs13424092	0.80[ASN][1000 genomes]
rs13429191	1.00[ASN][1000 genomes]
rs35041512	0.90[ASN][1000 genomes]
rs7588135	0.81[ASN][1000 genomes]
rs7601965	0.85[ASN][1000 genomes]
rs7608106	0.85[ASN][1000 genomes]

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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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
3	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
2	chr2:180102800-180127800	Weak transcription	Psoas Muscle	Psoas
3	chr2:180110200-180124200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:180112400-180126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:180112600-180125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:180112600-180126800	Weak transcription	Hela-S3	cervix
7	chr2:180115400-180127600	Weak transcription	NHLF	lung
8	chr2:180116200-180124400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:180116800-180124400	Enhancers	HepG2	liver
10	chr2:180117400-180126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:180117800-180124400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:180117800-180126400	Weak transcription	Small Intestine	intestine
13	chr2:180118000-180125200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:180118200-180124800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:180118600-180126200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:180118800-180127600	Weak transcription	HSMM	muscle
17	chr2:180118800-180128200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:180119200-180124400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:180119400-180128200	Weak transcription	Pancreas	Pancrea
20	chr2:180119600-180126200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:180120000-180127400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:180120200-180127200	Weak transcription	Fetal Kidney	kidney
23	chr2:180120200-180127600	Weak transcription	Fetal Stomach	stomach
24	chr2:180120400-180125000	Weak transcription	Right Atrium	heart
25	chr2:180120400-180126800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:180121200-180124400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:180122600-180127400	Enhancers	Adipose Nuclei	Adipose
28	chr2:180123600-180126400	Weak transcription	Fetal Brain Male	brain
29	chr2:180123600-180126800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:180123800-180124200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:180123800-180125000	Weak transcription	GM12878-XiMat	blood
32	chr2:180123800-180125800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:180123800-180127600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:180123800-180127800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:180123800-180127800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:180123800-180128000	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:180124000-180125200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:180124000-180127400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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