Variant report

Variant	rs12171585
Chromosome Location	chr7:104712003-104712004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104625024..104626547-chr7:104710166..104712101,2	MCF-7	breast:
2	chr7:104705262..104706850-chr7:104711768..104713879,2	K562	blood:
3	chr7:104705262..104710596-chr7:104710916..104715928,6	K562	blood:
4	chr7:104649023..104655837-chr7:104707951..104714558,12	K562	blood:
5	chr7:104652258..104656223-chr7:104710394..104715807,8	K562	blood:

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

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1013016	0.89[AMR][1000 genomes]
rs10224526	0.83[EUR][1000 genomes]
rs10231782	0.82[EUR][1000 genomes]
rs10231975	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10242713	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10245589	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10245796	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10253962	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10260346	0.82[EUR][1000 genomes]
rs10261472	0.83[EUR][1000 genomes]
rs10261573	0.83[EUR][1000 genomes]
rs10264273	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10268866	0.81[EUR][1000 genomes]
rs10276583	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10280009	0.80[AMR][1000 genomes]
rs10280752	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10808139	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10808140	0.81[EUR][1000 genomes]
rs10953464	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10953467	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11976329	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11981399	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12531424	0.81[EUR][1000 genomes]
rs12532062	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12532456	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12534140	0.82[EUR][1000 genomes]
rs12540007	0.83[EUR][1000 genomes]
rs12671368	0.81[EUR][1000 genomes]
rs12705297	0.82[EUR][1000 genomes]
rs12705299	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13230660	0.84[EUR][1000 genomes]
rs2058711	0.84[EUR][1000 genomes]
rs2216107	0.82[EUR][1000 genomes]
rs2237602	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237605	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240453	0.82[EUR][1000 genomes]
rs2240454	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240457	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2285532	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2299299	0.82[EUR][1000 genomes]
rs28489493	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2891761	0.83[EUR][1000 genomes]
rs3173872	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3213676	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3213741	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34202980	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35418021	0.81[ASN][1000 genomes]
rs35780942	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4730068	0.82[EUR][1000 genomes]
rs4730069	0.82[EUR][1000 genomes]
rs6466043	0.80[AMR][1000 genomes]
rs67739707	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6952534	0.81[EUR][1000 genomes]
rs740297	0.81[EUR][1000 genomes]
rs740298	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7785197	0.82[EUR][1000 genomes]
rs7810119	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs916704	0.84[EUR][1000 genomes]
rs9641340	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs999895	0.82[EUR][1000 genomes];0.80[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	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:104697000-104726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:104697600-104726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:104699800-104738400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:104700800-104726800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:104701200-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:104701600-104726800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr7:104701600-104727000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr7:104702200-104727000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:104702200-104738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
21	chr7:104702600-104716400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:104702800-104722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:104703200-104725400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr7:104703200-104727000	Strong transcription	Liver	Liver
26	chr7:104703400-104727400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:104703600-104725400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:104703600-104727000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
30	chr7:104703800-104725600	Strong transcription	Fetal Lung	lung
31	chr7:104703800-104726200	Strong transcription	Placenta	Placenta
32	chr7:104703800-104726600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr7:104703800-104735400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
35	chr7:104704600-104727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:104705000-104714600	Weak transcription	Brain Angular Gyrus	brain
37	chr7:104705400-104712400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:104705600-104722000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:104705800-104713000	Strong transcription	Fetal Muscle Leg	muscle
40	chr7:104705800-104726800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:104706000-104726400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:104707000-104721400	Strong transcription	Hela-S3	cervix
44	chr7:104707000-104727000	Strong transcription	GM12878-XiMat	blood
45	chr7:104707000-104739200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:104707400-104719800	Strong transcription	HepG2	liver
47	chr7:104707400-104727000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:104707400-104727000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:104707600-104712800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr7:104707800-104715000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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