Variant report

Variant	rs41274108
Chromosome Location	chr1:114525065-114525066
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114524706..114527224-chr1:114758079..114759790,2	MCF-7	breast:
2	chr1:114524848..114527263-chr1:114536709..114538580,2	MCF-7	breast:
3	chr1:114524656..114527176-chr1:114534209..114536962,2	K562	blood:
4	chr1:114524538..114527431-chr1:114576171..114578316,2	MCF-7	breast:
5	chr1:114523957..114526156-chr16:67217978..67219734,2	MCF-7	breast:
6	chr1:114353109..114354990-chr1:114522325..114525289,2	MCF-7	breast:
7	chr1:114524519..114527329-chr1:114827145..114829580,2	MCF-7	breast:
8	chr1:114523401..114526223-chr1:114556190..114558490,2	MCF-7	breast:
9	chr1:114519994..114522230-chr1:114524239..114526511,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179044	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000116774	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1039538	1.00[ASN][1000 genomes]
rs12072840	1.00[ASN][1000 genomes]
rs1394074	1.00[ASN][1000 genomes]
rs35061908	1.00[ASN][1000 genomes]
rs59099346	1.00[ASN][1000 genomes]
rs61013095	1.00[ASN][1000 genomes]
rs61324555	1.00[ASN][1000 genomes]
rs72988605	1.00[ASN][1000 genomes]
rs72988610	1.00[ASN][1000 genomes]
rs73003971	1.00[ASN][1000 genomes]
rs73003974	1.00[ASN][1000 genomes]
rs73003979	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114518400-114525600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:114518600-114525200	Weak transcription	Dnd41	blood
3	chr1:114518800-114525200	Weak transcription	GM12878-XiMat	blood
4	chr1:114518800-114525800	Weak transcription	Esophagus	oesophagus
5	chr1:114519800-114527000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:114521600-114526600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:114521600-114527000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:114522200-114525200	Weak transcription	Hela-S3	cervix
9	chr1:114522200-114525600	Weak transcription	Gastric	stomach
10	chr1:114522200-114525600	Weak transcription	Psoas Muscle	Psoas
11	chr1:114522200-114526000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:114522200-114526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:114522400-114525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:114522400-114525600	Weak transcription	Right Ventricle	heart
15	chr1:114522400-114527400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr1:114522800-114525600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:114522800-114526200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:114523000-114525200	Weak transcription	Spleen	Spleen
19	chr1:114523000-114525400	Weak transcription	Brain Germinal Matrix	brain
20	chr1:114523000-114525400	Weak transcription	Fetal Brain Male	brain
21	chr1:114523000-114525600	Weak transcription	Left Ventricle	heart
22	chr1:114523000-114526200	Weak transcription	Fetal Brain Female	brain
23	chr1:114523000-114526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:114523000-114526600	Weak transcription	HUVEC	blood vessel
25	chr1:114523200-114525200	Weak transcription	Aorta	Aorta
26	chr1:114523200-114525200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:114523200-114525200	Enhancers	Colonic Mucosa	Colon
28	chr1:114523200-114526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:114523400-114527200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:114523600-114525200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:114523600-114525400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:114523800-114526600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:114523800-114526600	Flanking Active TSS	HSMM	muscle
34	chr1:114523800-114534600	Weak transcription	Primary T cells from cord blood	blood
35	chr1:114524000-114525200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:114524000-114525200	Enhancers	HSMMtube	muscle
37	chr1:114524000-114526400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:114524000-114527800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:114524200-114525400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:114524200-114526400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:114524200-114526600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:114524200-114526600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:114524400-114525200	Weak transcription	Thymus	Thymus
44	chr1:114524400-114525800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:114524400-114526200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:114524400-114526400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:114524400-114526800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:114524400-114527000	Flanking Active TSS	Fetal Lung	lung
49	chr1:114524400-114528000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:114524600-114526000	Enhancers	NH-A	brain

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