Variant report

Variant	rs10252714
Chromosome Location	chr7:104694071-104694072
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104684090..104689143-chr7:104690596..104695842,7	K562	blood:
2	chr7:104652718..104655199-chr7:104691654..104694390,3	K562	blood:
3	chr7:104692480..104694895-chr7:104700465..104702158,2	MCF-7	breast:
4	chr7:104693711..104695531-chr7:104698360..104700318,2	MCF-7	breast:
5	chr7:104652104..104656031-chr7:104693551..104701213,11	MCF-7	breast:
6	chr7:104647926..104656528-chr7:104691112..104706949,31	K562	blood:

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011468	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10228174	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10247691	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10263499	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1029596	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11978288	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11981882	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12534212	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12705296	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2074753	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2097942	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2106500	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2299298	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299305	0.80[EUR][1000 genomes]
rs4602821	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4727618	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56016333	0.80[ASN][1000 genomes]
rs6466035	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67665940	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68004394	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6947388	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6950894	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6963395	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6967753	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6976394	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6980244	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7784126	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs888086	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9918494	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:104675000-104694200	Weak transcription	Spleen	Spleen
4	chr7:104675000-104694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:104678000-104812200	Strong transcription	Dnd41	blood
7	chr7:104679600-104695800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
9	chr7:104680800-104697400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:104681200-104697000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:104681200-104698400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:104681200-104698600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:104681200-104699200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr7:104681400-104695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:104681800-104695800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:104681800-104696000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr7:104682200-104694200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:104682800-104700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:104683200-104696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:104685200-104697600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:104685400-104708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:104685600-104695600	Weak transcription	Right Ventricle	heart
26	chr7:104685600-104703800	Weak transcription	Fetal Brain Male	brain
27	chr7:104685600-104704400	Weak transcription	Aorta	Aorta
28	chr7:104685600-104708200	Weak transcription	Esophagus	oesophagus
29	chr7:104685600-104709000	Weak transcription	Lung	lung
30	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr7:104687200-104695400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:104687400-104695800	Strong transcription	Fetal Stomach	stomach
34	chr7:104687600-104696400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:104687600-104700400	Weak transcription	NHEK	skin
36	chr7:104687800-104694200	Weak transcription	Right Atrium	heart
37	chr7:104687800-104694200	Weak transcription	Small Intestine	intestine
38	chr7:104687800-104695400	Strong transcription	Fetal Intestine Small	intestine
39	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:104688000-104696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:104688000-104703600	Weak transcription	A549	lung
42	chr7:104688200-104696200	Strong transcription	Osteobl	bone
43	chr7:104688200-104707600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:104688400-104696200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:104688800-104694200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:104688800-104694200	Weak transcription	Gastric	stomach
47	chr7:104688800-104694200	Weak transcription	Left Ventricle	heart
48	chr7:104688800-104694400	Weak transcription	Fetal Brain Female	brain
49	chr7:104688800-104696000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:104688800-104701200	Weak transcription	Ovary	ovary

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