Variant report

Variant	rs59442639
Chromosome Location	chr12:120314575-120314576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120314416..120314916-chr17:41465780..41466372,2	NB4	blood:
2	chr12:120313416..120316416-chr17:41464359..41467641,4	K562	blood:
3	chr12:120313415..120316416-chr17:41464359..41467641,4	K562	blood:
4	chr12:120313396..120316395-chr17:41464679..41467181,3	MCF-7	breast:
5	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
6	chr12:120314350..120315302-chr15:45492568..45493350,2	NB4	blood:

Variant related genes	Relation type
ENSG00000138606	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11064946	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12303725	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12303871	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307282	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316349	0.83[AMR][1000 genomes]
rs12319537	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319916	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320276	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313223	0.83[AMR][1000 genomes]
rs55906258	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233820	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903823	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57243313	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459050	0.81[EUR][1000 genomes]
rs57487797	1.00[ASN][1000 genomes]
rs57626094	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57908788	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58111169	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58893111	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347602	0.81[EUR][1000 genomes]
rs60392056	0.83[AMR][1000 genomes]
rs7304029	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73420604	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73420615	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967407	1.00[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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:120313800-120314600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:120313800-120314600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:120313800-120314600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:120313800-120314600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr12:120313800-120314600	Flanking Active TSS	Dnd41	blood
8	chr12:120313800-120314600	Flanking Active TSS	Hela-S3	cervix
9	chr12:120314000-120314600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:120314000-120314600	Flanking Active TSS	A549	lung
11	chr12:120314000-120314600	Flanking Active TSS	HMEC	breast
12	chr12:120314000-120314600	Flanking Active TSS	HUVEC	blood vessel
13	chr12:120314000-120314600	Flanking Active TSS	K562	blood
14	chr12:120314000-120314800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:120314000-120314800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr12:120314000-120315400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:120314000-120315400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:120314000-120315400	Active TSS	NH-A	brain
19	chr12:120314000-120315600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:120314000-120315600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:120314000-120315600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:120314000-120315800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr12:120314000-120315800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:120314000-120315800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:120314200-120314600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:120314200-120314600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:120314200-120314600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:120314200-120314600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:120314200-120314600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:120314200-120314600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:120314200-120314600	Flanking Active TSS	Fetal Brain Female	brain
32	chr12:120314200-120314600	Flanking Active TSS	Fetal Heart	heart
33	chr12:120314200-120314600	Flanking Active TSS	Fetal Stomach	stomach
34	chr12:120314200-120314600	Flanking Active TSS	Thymus	Thymus
35	chr12:120314200-120314600	Flanking Active TSS	HepG2	liver
36	chr12:120314200-120314800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:120314200-120314800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:120314200-120314800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:120314200-120314800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:120314200-120314800	Flanking Active TSS	Fetal Lung	lung
41	chr12:120314200-120314800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr12:120314200-120314800	Flanking Active TSS	Fetal Thymus	thymus
43	chr12:120314200-120314800	Flanking Active TSS	NHEK	skin
44	chr12:120314200-120315000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:120314200-120315200	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:120314200-120315400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:120314200-120315400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:120314200-120315400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:120314200-120315400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:120314200-120315400	Active TSS	Fetal Intestine Small	intestine

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