Variant report

Variant	rs11043247
Chromosome Location	chr12:122369446-122369447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122355684..122357967-chr12:122369270..122371880,2	K562	blood:
2	chr12:122363293..122365854-chr12:122367489..122369682,2	K562	blood:
3	chr12:122353628..122357829-chr12:122368964..122373628,4	MCF-7	breast:
4	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
5	chr12:122367527..122369805-chr12:122380881..122383741,2	K562	blood:
6	chr12:122367337..122370180-chr12:122371925..122374868,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10840635	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043265	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043269	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043276	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56304060	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57161524	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486783	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134726	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139277	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300379	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314835	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314989	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122357000-122370200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:122357000-122370600	Weak transcription	Aorta	Aorta
3	chr12:122357000-122380400	Weak transcription	Gastric	stomach
4	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:122363000-122384800	Weak transcription	Psoas Muscle	Psoas
6	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:122363200-122384600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:122363400-122369600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:122363400-122372000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:122363400-122375000	Weak transcription	Spleen	Spleen
11	chr12:122363400-122377000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:122363600-122369600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:122363600-122369800	Weak transcription	Fetal Kidney	kidney
14	chr12:122363600-122370400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:122363600-122371600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:122363600-122374400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:122363600-122374400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122363600-122374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:122363600-122375000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:122363600-122375000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:122363600-122375400	Weak transcription	Right Atrium	heart
22	chr12:122363600-122377400	Weak transcription	Fetal Brain Female	brain
23	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
25	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
26	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
27	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
29	chr12:122363800-122369600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:122363800-122371000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:122364400-122372000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:122365400-122375000	Weak transcription	Lung	lung
33	chr12:122365600-122369600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:122365600-122370600	Weak transcription	Pancreas	Pancrea
35	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:122365800-122370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:122365800-122371200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:122365800-122371200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:122365800-122371200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:122365800-122371600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:122365800-122374600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:122365800-122375000	Weak transcription	Liver	Liver
44	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
45	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:122366000-122369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:122366000-122370600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr12:122366000-122370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:122366000-122371000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:122366000-122371000	Weak transcription	A549	lung

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