Variant report

Variant	rs12705297
Chromosome Location	chr7:104707360-104707361
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104705262..104710596-chr7:104710916..104715928,6	K562	blood:
2	chr7:104706055..104708042-chr7:104708063..104710703,2	K562	blood:
3	chr7:104702912..104705436-chr7:104706409..104709574,3	K562	blood:
4	chr7:104619886..104621956-chr7:104705400..104707760,2	K562	blood:
5	chr7:104621807..104625592-chr7:104704805..104708118,3	K562	blood:
6	chr7:104651595..104655365-chr7:104705718..104710034,4	MCF-7	breast:
7	chr7:104699830..104702178-chr7:104704805..104707713,3	K562	blood:

No data

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

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1013016	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1019040	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10224526	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10231782	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10231975	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10241374	0.94[EUR][1000 genomes]
rs10242713	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10244764	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10245589	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10245676	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10245796	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10249746	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10249965	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10253962	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10260346	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10261472	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10261573	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10264273	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10268866	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10269027	0.84[EUR][1000 genomes]
rs10274607	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10276583	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10279486	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10279602	0.94[EUR][1000 genomes]
rs10280009	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10280470	0.81[EUR][1000 genomes]
rs10280752	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808139	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808140	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10953464	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953466	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10953467	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1143	0.90[ASN][1000 genomes]
rs11971732	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11973516	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11976329	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11981399	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12171585	0.82[EUR][1000 genomes]
rs12531424	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532062	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532456	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534140	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12540007	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667625	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12671368	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705299	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13230660	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1859786	0.88[ASN][1000 genomes]
rs1967301	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2011258	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2058711	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2214928	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2216107	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237602	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237604	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2237605	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237606	0.88[ASN][1000 genomes]
rs2237607	0.83[EUR][1000 genomes]
rs2237608	0.88[ASN][1000 genomes]
rs2237610	0.87[ASN][1000 genomes]
rs2240453	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240454	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240455	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2240457	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240465	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2283016	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2285532	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2299299	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28434158	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28489493	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2891761	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3173872	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3213676	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213741	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34202980	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34558707	0.91[AMR][1000 genomes]
rs35418021	0.95[ASN][1000 genomes]
rs35780942	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735377	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3815256	0.87[ASN][1000 genomes]
rs4730065	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4730067	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4730068	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4730069	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730071	0.83[EUR][1000 genomes]
rs6466043	0.87[ASN][1000 genomes]
rs6466044	0.84[ASN][1000 genomes]
rs6466045	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466046	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67739707	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6944847	0.80[EUR][1000 genomes]
rs6952534	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6972229	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71562633	0.83[EUR][1000 genomes]
rs740297	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs740298	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs740300	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7780887	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7783812	0.87[ASN][1000 genomes]
rs7785197	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7787448	0.87[ASN][1000 genomes]
rs7800233	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7805792	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7810119	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811349	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs875567	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs875568	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs916704	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs960437	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9641340	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9641341	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs999895	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1801863	chr7:104699637-104713419	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 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	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
4	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:104685400-104708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:104685600-104708200	Weak transcription	Esophagus	oesophagus
9	chr7:104685600-104709000	Weak transcription	Lung	lung
10	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:104688200-104707600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:104688800-104707400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:104689400-104708200	Weak transcription	NHLF	lung
16	chr7:104689800-104708200	Weak transcription	Pancreas	Pancrea
17	chr7:104694000-104711200	Strong transcription	Primary B cells from cord blood	blood
18	chr7:104694400-104708200	Weak transcription	Gastric	stomach
19	chr7:104694600-104708200	Weak transcription	Right Atrium	heart
20	chr7:104694600-104708200	Weak transcription	Spleen	Spleen
21	chr7:104695200-104708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:104697000-104726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:104697400-104708200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:104697600-104726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:104699800-104738400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:104700800-104726800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr7:104701200-104711400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:104701200-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr7:104701600-104708600	Weak transcription	Ovary	ovary
31	chr7:104701600-104726800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr7:104701600-104727000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr7:104701800-104710200	Strong transcription	NHDF-Ad	bronchial
34	chr7:104702000-104707600	Weak transcription	Fetal Heart	heart
35	chr7:104702000-104708000	Weak transcription	HSMMtube	muscle
36	chr7:104702000-104708200	Weak transcription	Right Ventricle	heart
37	chr7:104702000-104709800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:104702200-104710600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:104702200-104727000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:104702200-104738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
42	chr7:104702600-104709000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:104702600-104716400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:104702800-104722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:104703200-104710800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:104703200-104710800	Strong transcription	Adipose Nuclei	Adipose
48	chr7:104703200-104725400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr7:104703200-104727000	Strong transcription	Liver	Liver
50	chr7:104703400-104727400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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