Variant report

Variant	rs278154
Chromosome Location	chr12:120121050-120121051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120116075..120118717-chr12:120119086..120121291,2	K562	blood:
2	chr12:120119326..120121851-chr12:120158588..120161443,2	MCF-7	breast:
3	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:
4	chr12:120120248..120122666-chr12:120276652..120278749,2	K562	blood:

Variant related genes	Relation type
ENSG00000111725	Chromatin interaction
ENSG00000248636	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10849688	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849690	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064873	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175878	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978107	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978108	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278123	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278126	1.00[ASN][1000 genomes]
rs278143	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278144	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278145	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278147	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278148	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278149	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278151	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278152	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278155	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930004	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4213	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490266	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490267	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304996	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310266	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960723	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963248	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967558	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972600	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979627	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804667	1.00[ASN][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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120122000	Strong transcription	A549	lung
2	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120109200-120121200	Strong transcription	Fetal Stomach	stomach
4	chr12:120109400-120121200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:120112600-120130400	Weak transcription	Right Atrium	heart
6	chr12:120113200-120121200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:120116400-120121600	Genic enhancers	Fetal Intestine Small	intestine
8	chr12:120116800-120122400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
10	chr12:120117000-120123200	Weak transcription	Fetal Brain Male	brain
11	chr12:120117000-120145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:120118800-120124600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:120119200-120122000	Weak transcription	Fetal Lung	lung
14	chr12:120119200-120123600	Enhancers	Stomach Mucosa	stomach
15	chr12:120119200-120125800	Enhancers	Fetal Kidney	kidney
16	chr12:120119200-120130200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:120119200-120135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:120119200-120141200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:120119400-120124600	Weak transcription	NHEK	skin
20	chr12:120119400-120124800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:120119400-120125200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:120119600-120123200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:120119600-120124200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:120119600-120130200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:120119600-120147000	Weak transcription	Brain Substantia Nigra	brain
26	chr12:120119800-120121800	Weak transcription	Aorta	Aorta
27	chr12:120119800-120122200	Weak transcription	Ovary	ovary
28	chr12:120119800-120123400	Weak transcription	Lung	lung
29	chr12:120119800-120124000	Weak transcription	Fetal Thymus	thymus
30	chr12:120119800-120125400	Weak transcription	Hela-S3	cervix
31	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
32	chr12:120120000-120121400	Enhancers	HepG2	liver
33	chr12:120120000-120121600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:120120000-120121800	Enhancers	Adipose Nuclei	Adipose
35	chr12:120120000-120124200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:120120000-120124200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:120120000-120124400	Weak transcription	Fetal Brain Female	brain
38	chr12:120120000-120124400	Weak transcription	Right Ventricle	heart
39	chr12:120120000-120124800	Weak transcription	HMEC	breast
40	chr12:120120000-120129600	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:120120000-120135000	Weak transcription	Esophagus	oesophagus
42	chr12:120120000-120135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:120120200-120121200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:120120200-120121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:120120200-120122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:120120200-120122000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:120120200-120122000	Weak transcription	Thymus	Thymus
48	chr12:120120200-120122400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr12:120120200-120123200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:120120200-120123400	Weak transcription	Dnd41	blood

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