Variant report

Variant	rs1934217
Chromosome Location	chr6:149400218-149400219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149364667..149368591-chr6:149398600..149403391,5	MCF-7	breast:
2	chr6:149376456..149387248-chr6:149393069..149406749,44	MCF-7	breast:
3	chr6:149348124..149349985-chr6:149399476..149401160,2	MCF-7	breast:
4	chr6:149354185..149354797-chr6:149399693..149400514,2	MCF-7	breast:
5	chr6:149399566..149401649-chr6:149452459..149454867,2	MCF-7	breast:
6	chr6:149399709..149402380-chr6:149772394..149774498,2	K562	blood:
7	chr6:149400077..149402541-chr6:149553088..149555803,2	MCF-7	breast:
8	chr6:149398184..149404330-chr6:149748783..149757211,17	MCF-7	breast:
9	chr6:149350906..149355297-chr6:149396132..149403444,27	MCF-7	breast:
10	chr6:149396450..149400811-chr6:149637735..149640677,5	MCF-7	breast:
11	chr6:149068413..149070545-chr6:149400002..149402666,2	MCF-7	breast:
12	chr17:57921310..57923201-chr6:149398564..149400704,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction
ENSG00000111962	Chromatin interaction
ENSG00000236591	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10872629	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1317171	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1320575	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2340798	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570933	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6570934	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6570935	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6570938	0.81[ASN][1000 genomes]
rs6901019	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6901863	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6902452	0.81[ASN][1000 genomes]
rs6906914	0.81[ASN][1000 genomes]
rs6915298	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6931675	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6935330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7738162	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7752744	0.81[ASN][1000 genomes]
rs7760242	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7761119	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7776117	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9285516	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9322166	0.82[AMR][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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:149362800-149401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:149382800-149401400	Weak transcription	Esophagus	oesophagus
4	chr6:149385200-149404000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:149387400-149401400	Weak transcription	Lung	lung
6	chr6:149387400-149404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:149387600-149401800	Weak transcription	Brain Substantia Nigra	brain
8	chr6:149387800-149401000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:149387800-149401000	Weak transcription	Brain Anterior Caudate	brain
10	chr6:149387800-149401000	Weak transcription	Fetal Lung	lung
11	chr6:149388200-149400400	Weak transcription	Placenta	Placenta
12	chr6:149391600-149400800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:149395000-149415000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:149395600-149401200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:149395800-149401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:149396200-149400600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:149396400-149401200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:149396800-149400600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:149396800-149403400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:149397000-149400400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:149397200-149401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:149397400-149400400	Weak transcription	Fetal Stomach	stomach
23	chr6:149397400-149400400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:149397400-149400600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:149397400-149400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:149397400-149400800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:149397400-149400800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:149397400-149402200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:149397400-149403400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:149397400-149403600	Weak transcription	Primary T cells from cord blood	blood
31	chr6:149397600-149400400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:149397600-149400400	Weak transcription	NHDF-Ad	bronchial
33	chr6:149397600-149400400	Weak transcription	NHLF	lung
34	chr6:149397600-149400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:149397600-149400600	Weak transcription	Aorta	Aorta
36	chr6:149397600-149400800	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:149397600-149403600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:149397800-149400400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:149397800-149400400	Weak transcription	HSMMtube	muscle
40	chr6:149397800-149400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:149397800-149400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:149397800-149400600	Weak transcription	Fetal Heart	heart
43	chr6:149397800-149400600	Weak transcription	HMEC	breast
44	chr6:149397800-149400600	Weak transcription	HSMM	muscle
45	chr6:149397800-149401600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:149397800-149407600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:149398600-149401600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:149398600-149403200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:149398800-149400400	Weak transcription	Fetal Thymus	thymus
50	chr6:149398800-149401000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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