Variant report

Variant	rs7182070
Chromosome Location	chr15:40507243-40507244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40398119..40400466-chr15:40506944..40509064,2	K562	blood:

Variant related genes	Relation type
ENSG00000104081	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11853477	1.00[ASN][1000 genomes]
rs11858747	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494533	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1680156	1.00[ASN][1000 genomes]
rs17668261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17668415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759843	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62019997	1.00[ASN][1000 genomes]
rs62020025	1.00[ASN][1000 genomes]
rs62020027	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020029	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020031	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020050	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6492939	1.00[CHB][hapmap]
rs7165187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171605	1.00[ASN][1000 genomes]
rs7173181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183293	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74011373	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023415	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:40454000-40515200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
5	chr15:40455600-40518200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
8	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:40471400-40517600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:40471400-40524400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:40473200-40517800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:40473600-40525200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:40475000-40526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:40475400-40522600	Strong transcription	Dnd41	blood
16	chr15:40481800-40524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:40483000-40526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:40483800-40509400	Weak transcription	Fetal Brain Male	brain
19	chr15:40485400-40513800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40485400-40527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40486600-40521000	Weak transcription	Placenta	Placenta
22	chr15:40487600-40518200	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr15:40487800-40509400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:40488200-40517000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr15:40490800-40519000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:40491000-40526600	Weak transcription	Primary B cells from cord blood	blood
27	chr15:40491200-40507600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:40491200-40527200	Strong transcription	Fetal Thymus	thymus
29	chr15:40491600-40524600	Weak transcription	Fetal Heart	heart
30	chr15:40491800-40523200	Weak transcription	Esophagus	oesophagus
31	chr15:40492800-40509400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:40492800-40524000	Weak transcription	Fetal Kidney	kidney
33	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:40493400-40527000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr15:40496600-40524800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:40497400-40508600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:40497800-40508600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:40497800-40517600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:40498000-40507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:40498200-40507800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:40498200-40515600	Strong transcription	GM12878-XiMat	blood
42	chr15:40498400-40508600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:40498400-40508600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:40498400-40508600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:40498400-40508600	Strong transcription	Fetal Muscle Leg	muscle
46	chr15:40498600-40508600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr15:40498800-40520600	Weak transcription	NHLF	lung
48	chr15:40499400-40508600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:40499800-40509800	Weak transcription	NH-A	brain
50	chr15:40502000-40521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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