Variant report

Variant	rs1124117
Chromosome Location	chr6:139911545-139911546
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139904154..139906110-chr6:139909809..139911631,3	K562	blood:
2	chr6:139695373..139699220-chr6:139907427..139911701,8	MCF-7	breast:
3	chr6:139691841..139699576-chr6:139900868..139917289,34	MCF-7	breast:
4	chr6:139907871..139910269-chr6:139911458..139913743,2	K562	blood:
5	chr6:139694028..139695554-chr6:139910371..139911938,2	K562	blood:
6	chr6:139694045..139697231-chr6:139910488..139913989,4	K562	blood:
7	chr6:139911361..139914262-chr6:139921239..139923809,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10080595	0.89[YRI][hapmap]
rs1124118	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17069079	1.00[AMR][1000 genomes]
rs1936206	1.00[AMR][1000 genomes]
rs4275075	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs764214	1.00[AMR][1000 genomes]
rs7757588	1.00[AMR][1000 genomes]
rs9495533	0.89[YRI][hapmap]
rs9495534	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139900800-139919200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:139906800-139913400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:139906800-139913800	Enhancers	Fetal Kidney	kidney
4	chr6:139907200-139919800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:139907600-139913800	Weak transcription	Pancreas	Pancrea
6	chr6:139907600-139918400	Weak transcription	Fetal Brain Male	brain
7	chr6:139907600-139925200	Weak transcription	Aorta	Aorta
8	chr6:139908800-139913600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:139908800-139914400	Enhancers	Fetal Intestine Large	intestine
10	chr6:139908800-139920600	Enhancers	Fetal Intestine Small	intestine
11	chr6:139909000-139913000	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:139909000-139913800	Enhancers	Colon Smooth Muscle	Colon
13	chr6:139909000-139914200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:139909400-139915600	Weak transcription	Esophagus	oesophagus
15	chr6:139909400-139925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:139909600-139911800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:139909600-139913800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:139909600-139918800	Weak transcription	Left Ventricle	heart
19	chr6:139909600-139923400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:139909800-139911600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:139909800-139911800	Weak transcription	HSMMtube	muscle
22	chr6:139909800-139912200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:139909800-139912600	Weak transcription	Ovary	ovary
24	chr6:139909800-139913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:139909800-139916000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:139909800-139916600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:139910000-139912600	Enhancers	HepG2	liver
28	chr6:139910000-139913600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:139910000-139913800	Weak transcription	K562	blood
30	chr6:139910000-139918000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:139910000-139918800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:139910200-139911800	Weak transcription	Fetal Heart	heart
33	chr6:139910200-139912200	Weak transcription	HSMM	muscle
34	chr6:139910200-139912600	Weak transcription	Brain Angular Gyrus	brain
35	chr6:139910200-139913200	Weak transcription	HUVEC	blood vessel
36	chr6:139910200-139916200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:139910200-139917800	Weak transcription	HMEC	breast
38	chr6:139910200-139918400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:139910400-139912600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:139910400-139914000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:139910400-139917600	Weak transcription	NH-A	brain
42	chr6:139910600-139912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:139910600-139913800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:139910600-139915800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:139910600-139916000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:139910600-139918400	Weak transcription	A549	lung
47	chr6:139910800-139912200	Weak transcription	NHDF-Ad	bronchial
48	chr6:139910800-139912400	Weak transcription	NHLF	lung
49	chr6:139910800-139913000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:139910800-139913200	Weak transcription	Stomach Smooth Muscle	stomach

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