Variant report

Variant	rs56397455
Chromosome Location	chr8:126240774-126240775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126238065..126239621-chr8:126240641..126243197,2	MCF-7	breast:
2	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
3	chr8:126238474..126242182-chr8:126243434..126246858,3	K562	blood:
4	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
5	chr8:126239449..126242296-chr8:126447822..126450391,2	MCF-7	breast:
6	chr8:126239983..126246163-chr8:126440449..126448219,20	MCF-7	breast:
7	chr8:126240073..126242542-chr8:126442381..126444046,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16900461	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56380777	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73704544	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73704546	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73704550	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73704554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126226800-126260200	Weak transcription	Right Ventricle	heart
2	chr8:126233800-126245200	Weak transcription	Pancreas	Pancrea
3	chr8:126233800-126249600	Weak transcription	Gastric	stomach
4	chr8:126233800-126264800	Weak transcription	Left Ventricle	heart
5	chr8:126234000-126242400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:126234200-126242800	Weak transcription	Hela-S3	cervix
7	chr8:126235600-126241800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:126235600-126243800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:126237800-126240800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:126237800-126240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:126237800-126242600	Weak transcription	Small Intestine	intestine
12	chr8:126237800-126243400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:126237800-126246000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:126238000-126241000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr8:126238600-126242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:126238800-126240800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:126238800-126241200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:126238800-126244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:126238800-126244800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:126238800-126253600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:126239000-126240800	Weak transcription	NHDF-Ad	bronchial
22	chr8:126239000-126243400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:126239000-126244800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:126239000-126244800	Weak transcription	Osteobl	bone
25	chr8:126239200-126240800	Weak transcription	K562	blood
26	chr8:126239200-126241000	Weak transcription	NHEK	skin
27	chr8:126239200-126243400	Weak transcription	HepG2	liver
28	chr8:126239200-126245200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:126239400-126241000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:126239400-126242600	Weak transcription	Aorta	Aorta
31	chr8:126239400-126242800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:126239400-126243600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:126239400-126244600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:126239600-126240800	Weak transcription	HMEC	breast
35	chr8:126239600-126241000	Weak transcription	Brain Angular Gyrus	brain
36	chr8:126239600-126242400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:126239600-126242400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:126239600-126242400	Weak transcription	GM12878-XiMat	blood
39	chr8:126239600-126242800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:126239600-126242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:126239600-126242800	Weak transcription	Lung	lung
42	chr8:126239600-126243200	Weak transcription	Primary B cells from cord blood	blood
43	chr8:126239600-126244000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:126239600-126245200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:126239800-126240800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:126239800-126240800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:126239800-126240800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:126239800-126240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:126239800-126240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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