Variant report

Variant	rs60541195
Chromosome Location	chr1:226899632-226899633
allele	C/G
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	chr1:226898679..226899853-chr1:227014945..227016440,5	MCF-7	breast:
2	chr1:226898138..226900809-chr1:226904974..226906566,2	K562	blood:
3	chr1:226896960..226898684-chr1:226898762..226901661,3	K562	blood:
4	chr1:226821585..226822333-chr1:226899009..226899902,2	K562	blood:
5	chr1:226891257..226894098-chr1:226898810..226900553,2	K562	blood:
6	chr1:226896960..226898684-chr1:226898762..226901394,2	K562	blood:
7	chr1:226898289..226900742-chr1:226913150..226915138,2	K562	blood:
8	chr1:226889377..226893057-chr1:226895503..226902234,11	MCF-7	breast:
9	chr1:226889403..226893513-chr1:226896039..226901883,9	MCF-7	breast:
10	chr1:226898681..226901320-chr1:227002412..227005271,2	MCF-7	breast:

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12076039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4653463	0.94[AFR][1000 genomes]
rs4653765	0.94[AFR][1000 genomes]
rs57646605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58304151	1.00[AMR][1000 genomes]
rs60166938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100921	1.00[AMR][1000 genomes]
rs73100928	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651015	1.00[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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891600-226900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:226891600-226900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:226891800-226901400	Weak transcription	Fetal Kidney	kidney
5	chr1:226891800-226903000	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
7	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:226894400-226902000	Enhancers	Brain Angular Gyrus	brain
9	chr1:226894800-226902400	Weak transcription	Psoas Muscle	Psoas
10	chr1:226895400-226900200	Strong transcription	Dnd41	blood
11	chr1:226895400-226900800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:226895400-226900800	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:226895400-226901000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:226895600-226901600	Enhancers	Colon Smooth Muscle	Colon
15	chr1:226895800-226901800	Enhancers	Brain Anterior Caudate	brain
16	chr1:226896000-226901800	Enhancers	Placenta	Placenta
17	chr1:226896000-226902600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:226896000-226903400	Enhancers	Brain Hippocampus Middle	brain
19	chr1:226896200-226899800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:226896200-226901800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:226896200-226909800	Weak transcription	Fetal Intestine Large	intestine
22	chr1:226896400-226900200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:226896400-226900600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:226896400-226901000	Enhancers	Adipose Nuclei	Adipose
25	chr1:226896600-226900000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:226896600-226901400	Enhancers	Fetal Muscle Leg	muscle
27	chr1:226896600-226910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:226896800-226900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:226896800-226901200	Enhancers	Left Ventricle	heart
30	chr1:226896800-226901800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:226897000-226901600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:226897000-226901800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:226897000-226901800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:226897000-226910200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:226897200-226902000	Weak transcription	Fetal Intestine Small	intestine
36	chr1:226897200-226905000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:226897400-226901400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:226897400-226902000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:226897400-226905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:226897600-226901000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:226897600-226901200	Enhancers	Lung	lung
42	chr1:226897600-226902600	Enhancers	Spleen	Spleen
43	chr1:226897600-226904200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:226897600-226905400	Weak transcription	NHLF	lung
45	chr1:226897800-226900800	Enhancers	HUVEC	blood vessel
46	chr1:226897800-226902000	Enhancers	Brain Substantia Nigra	brain
47	chr1:226898000-226901400	Enhancers	Esophagus	oesophagus
48	chr1:226898000-226901400	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:226898200-226899800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:226898200-226900800	Enhancers	Pancreas	Pancrea

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