Variant report

Variant	rs62401701
Chromosome Location	chr6:31025949-31025950
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31018538..31021131-chr6:31024335..31025981,2	K562	blood:
2	chr6:31025808..31026599-chr6:31047303..31047806,2	MCF-7	breast:
3	chr6:30852059..30854208-chr6:31023741..31026311,2	MCF-7	breast:
4	chr6:31010860..31013816-chr6:31025922..31027807,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC22-1	chr6:31021984-31027653	XLOC_005243

Variant related genes	Relation type
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11756797	0.83[EUR][1000 genomes]
rs11758495	0.83[EUR][1000 genomes]
rs35157432	0.91[EUR][1000 genomes]
rs62398706	0.83[EUR][1000 genomes]
rs62398740	1.00[EUR][1000 genomes]
rs62398741	1.00[EUR][1000 genomes]
rs62398744	1.00[EUR][1000 genomes]
rs62398819	0.91[EUR][1000 genomes]
rs62399060	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62399061	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62399064	0.91[EUR][1000 genomes]
rs62399065	0.91[EUR][1000 genomes]
rs62399066	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884130	chr6:31014305-31038756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv884131	chr6:31014305-31040725	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv970677	chr6:31020994-31026537	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv511865	chr6:31023160-31026119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv884133	chr6:31024673-31036148	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31009600-31027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:31022200-31027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:31022400-31026600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:31022600-31026400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:31022600-31028200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:31022800-31026600	Enhancers	NHEK	skin
8	chr6:31023200-31027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:31023200-31028200	Enhancers	HMEC	breast
10	chr6:31023800-31027200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:31024200-31026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:31024400-31027200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:31024600-31026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:31024600-31026600	Enhancers	HSMMtube	muscle
15	chr6:31024600-31026600	Enhancers	NHDF-Ad	bronchial
16	chr6:31024600-31027600	Enhancers	Brain Substantia Nigra	brain
17	chr6:31024800-31026000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:31024800-31026000	Enhancers	Brain Germinal Matrix	brain
19	chr6:31024800-31026000	Enhancers	Pancreas	Pancrea
20	chr6:31024800-31026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:31024800-31026400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:31024800-31026400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:31024800-31026400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:31024800-31026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:31024800-31026600	Enhancers	HSMM	muscle
26	chr6:31024800-31026600	Enhancers	NHLF	lung
27	chr6:31024800-31026600	Enhancers	Osteobl	bone
28	chr6:31024800-31027600	Enhancers	Brain Anterior Caudate	brain
29	chr6:31025000-31026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:31025000-31026200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:31025000-31026600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:31025200-31026000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:31025200-31026200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:31025200-31026200	Enhancers	Fetal Stomach	stomach
35	chr6:31025200-31026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:31025200-31026400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:31025200-31026400	Enhancers	A549	lung
38	chr6:31025200-31027400	Enhancers	Brain Hippocampus Middle	brain
39	chr6:31025200-31028200	Enhancers	Brain Cingulate Gyrus	brain
40	chr6:31025400-31026000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:31025400-31026200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:31025400-31026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:31025400-31026200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:31025400-31026200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:31025400-31026200	Bivalent Enhancer	Placenta	Placenta
46	chr6:31025400-31026200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr6:31025400-31026400	Enhancers	Fetal Lung	lung
48	chr6:31025400-31026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:31025400-31027400	Enhancers	Brain Angular Gyrus	brain
50	chr6:31025600-31026000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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