Variant report

Variant	rs61039317
Chromosome Location	chr6:131325136-131325137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:131324627-131325380	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr6:131324836-131325300	H1-hESC	embryonic stem cell:	n/a	chr6:131324992-131325001
3	TEAD4	chr6:131324856-131325195	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr6:131324785-131325236	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr6:131324986-131325318	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131322621..131325440-chr6:131350090..131351837,2	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58237210	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60280151	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621564	1.00[AMR][1000 genomes]
rs73623310	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623396	1.00[AMR][1000 genomes]
rs73623492	1.00[AMR][1000 genomes]
rs73623501	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623827	1.00[AMR][1000 genomes]
rs73625103	1.00[AMR][1000 genomes]
rs73625615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625616	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2509637	chr6:131325137-131325137	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	n/a	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:131318800-131325800	Weak transcription	Fetal Thymus	thymus
3	chr6:131318800-131328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:131319000-131325600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:131320400-131325200	Weak transcription	Right Ventricle	heart
7	chr6:131321000-131326600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:131321400-131325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:131321800-131327200	Enhancers	Fetal Stomach	stomach
10	chr6:131322000-131325600	Weak transcription	Stomach Mucosa	stomach
11	chr6:131322400-131325800	Weak transcription	Placenta	Placenta
12	chr6:131322400-131327000	Enhancers	Brain Substantia Nigra	brain
13	chr6:131322600-131325200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:131322600-131326600	Enhancers	Brain Hippocampus Middle	brain
15	chr6:131322600-131326800	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:131322600-131327000	Enhancers	Brain Anterior Caudate	brain
17	chr6:131322600-131327000	Enhancers	Fetal Lung	lung
18	chr6:131322600-131333200	Weak transcription	Pancreas	Pancrea
19	chr6:131323000-131325600	Enhancers	Adipose Nuclei	Adipose
20	chr6:131323200-131325200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:131323200-131325400	Enhancers	Osteobl	bone
22	chr6:131323200-131326000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:131323400-131325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:131323600-131325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:131323600-131325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:131323600-131325600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:131323600-131325600	Weak transcription	Spleen	Spleen
28	chr6:131323600-131326600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:131323600-131327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:131323600-131327800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:131323600-131328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:131323800-131325800	Weak transcription	NHDF-Ad	bronchial
33	chr6:131323800-131326000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:131323800-131327000	Enhancers	NHLF	lung
35	chr6:131323800-131328000	Weak transcription	A549	lung
36	chr6:131323800-131328200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:131324000-131325400	Weak transcription	HMEC	breast
38	chr6:131324000-131334200	Weak transcription	Small Intestine	intestine
39	chr6:131324200-131326800	Enhancers	Fetal Heart	heart
40	chr6:131324400-131325800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:131324400-131325800	Enhancers	HSMM	muscle
42	chr6:131324400-131326000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:131324400-131326800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:131324600-131326000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:131324600-131326000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:131324600-131326000	Enhancers	Fetal Kidney	kidney
47	chr6:131324600-131326000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:131324600-131326400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:131324600-131327200	Enhancers	Fetal Muscle Leg	muscle
50	chr6:131324600-131327400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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