Variant report

Variant	rs7301099
Chromosome Location	chr12:56543698-56543699
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56434536..56437733-chr12:56543304..56547761,4	K562	blood:
2	chr12:56543262..56546073-chr12:56618060..56619821,2	K562	blood:
3	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
4	chr12:56518356..56534331-chr12:56534720..56548698,49	MCF-7	breast:
5	chr12:56434062..56437733-chr12:56543304..56547386,5	K562	blood:

Variant related genes	Relation type
ENSG00000139579	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000258345	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10747762	0.91[AMR][1000 genomes]
rs11171774	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1274501	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1619653	1.00[MEX][hapmap];0.80[MKK][hapmap]
rs1689507	1.00[MEX][hapmap];0.80[MKK][hapmap]
rs1689516	1.00[MEX][hapmap];0.80[MKK][hapmap]
rs1701705	1.00[MEX][hapmap]
rs1995742	0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2066811	1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs2450101	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2450104	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2456445	1.00[MEX][hapmap];0.80[MKK][hapmap]
rs2629449	0.91[ASW][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs35382885	1.00[MEX][hapmap]
rs4759219	1.00[AMR][1000 genomes]
rs705706	1.00[MEX][hapmap];0.80[MKK][hapmap]
rs772925	0.80[MKK][hapmap]
rs772926	0.80[MKK][hapmap]
rs773644	0.82[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs773647	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs808896	1.00[MEX][hapmap];0.80[MKK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56528200-56545200	Weak transcription	Stomach Mucosa	stomach
2	chr12:56532000-56545400	Weak transcription	Fetal Brain Male	brain
3	chr12:56532800-56545000	Weak transcription	Psoas Muscle	Psoas
4	chr12:56537200-56545200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:56537200-56545600	Weak transcription	Small Intestine	intestine
6	chr12:56537600-56544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:56538200-56545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:56538400-56545200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:56538400-56545600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56538800-56545200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:56538800-56545200	Weak transcription	Fetal Brain Female	brain
12	chr12:56538800-56545400	Weak transcription	Right Atrium	heart
13	chr12:56539000-56544000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:56539000-56544200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:56539000-56544400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:56539000-56544600	Weak transcription	Dnd41	blood
17	chr12:56539000-56545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:56539000-56545200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:56539000-56545200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:56539000-56545200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:56539000-56545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:56539000-56545200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:56539000-56545200	Weak transcription	Gastric	stomach
24	chr12:56539000-56545200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:56539000-56545200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:56539000-56545200	Weak transcription	Spleen	Spleen
27	chr12:56539000-56545400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:56539000-56545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:56539000-56545400	Weak transcription	Lung	lung
30	chr12:56539000-56545400	Weak transcription	Right Ventricle	heart
31	chr12:56539000-56545600	Weak transcription	Aorta	Aorta
32	chr12:56539200-56544000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:56539200-56544000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:56539200-56544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:56539200-56544600	Weak transcription	HepG2	liver
36	chr12:56539200-56545000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:56539200-56545000	Weak transcription	Left Ventricle	heart
38	chr12:56539200-56545200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:56539200-56545200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:56539200-56545200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:56539200-56545200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:56539200-56545200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:56539200-56545200	Weak transcription	Thymus	Thymus
44	chr12:56539200-56545400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:56539200-56545400	Weak transcription	Esophagus	oesophagus
46	chr12:56539400-56544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:56539400-56544000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:56539400-56544000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:56539400-56544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:56539400-56544200	Weak transcription	Primary T cells from cord blood	blood

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