Variant report

Variant	rs6694485
Chromosome Location	chr1:150505576-150505577
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150457160..150457987-chr1:150504714..150505677,5	MCF-7	breast:
2	chr1:150458457..150460926-chr1:150503532..150505765,2	K562	blood:
3	chr1:150504741..150505587-chr1:150531856..150532693,3	MCF-7	breast:
4	chr1:150435913..150437484-chr1:150504730..150505672,10	MCF-7	breast:
5	chr1:150459747..150461313-chr1:150503560..150505581,2	MCF-7	breast:
6	chr1:150501374..150507870-chr1:150516377..150523612,9	K562	blood:
7	chr1:150504726..150505589-chr1:150532122..150532627,2	K562	blood:
8	chr1:150457403..150459497-chr1:150504358..150506324,2	MCF-7	breast:
9	chr1:150505075..150507368-chr1:150509806..150511518,2	MCF-7	breast:
10	chr1:150458185..150460398-chr1:150503191..150505589,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143374	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143382	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10888585	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16837432	0.96[ASN][1000 genomes]
rs60162170	0.85[ASN][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150502000-150510800	Weak transcription	Aorta	Aorta
2	chr1:150502200-150506400	Weak transcription	Right Atrium	heart
3	chr1:150503200-150506000	Enhancers	K562	blood
4	chr1:150504000-150507000	Enhancers	Fetal Intestine Large	intestine
5	chr1:150504200-150505600	Flanking Active TSS	HepG2	liver
6	chr1:150504200-150505800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:150504200-150505800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:150504200-150505800	Enhancers	Pancreas	Pancrea
9	chr1:150504200-150505800	Enhancers	NH-A	brain
10	chr1:150504200-150506000	Enhancers	Placenta	Placenta
11	chr1:150504200-150506600	Enhancers	Stomach Mucosa	stomach
12	chr1:150504200-150506800	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:150504200-150507000	Enhancers	Fetal Intestine Small	intestine
14	chr1:150504200-150507000	Enhancers	HMEC	breast
15	chr1:150504200-150507600	Enhancers	Colonic Mucosa	Colon
16	chr1:150504200-150511200	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:150504200-150511600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:150504600-150505600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:150504600-150505800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:150504600-150506000	Enhancers	Adipose Nuclei	Adipose
21	chr1:150504600-150507000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:150504600-150511600	Enhancers	Fetal Muscle Leg	muscle
23	chr1:150504800-150505600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:150504800-150505600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:150504800-150505600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:150504800-150505600	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:150504800-150505600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr1:150504800-150505800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:150504800-150505800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:150504800-150505800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:150504800-150505800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:150504800-150505800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:150504800-150505800	Enhancers	Liver	Liver
34	chr1:150504800-150505800	Enhancers	Colon Smooth Muscle	Colon
35	chr1:150504800-150505800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr1:150504800-150505800	Enhancers	A549	lung
37	chr1:150504800-150505800	Enhancers	NHLF	lung
38	chr1:150504800-150506000	Enhancers	Psoas Muscle	Psoas
39	chr1:150504800-150506000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:150504800-150507000	Enhancers	HSMMtube	muscle
41	chr1:150504800-150507000	Enhancers	NHEK	skin
42	chr1:150505000-150505600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:150505000-150505600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:150505000-150505600	Enhancers	Fetal Stomach	stomach
45	chr1:150505000-150505600	Enhancers	NHDF-Ad	bronchial
46	chr1:150505000-150505800	Enhancers	Left Ventricle	heart
47	chr1:150505000-150505800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:150505000-150507000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:150505200-150505600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:150505200-150505600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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