Variant report

Variant	rs13261392
Chromosome Location	chr8:124785680-124785681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124785385..124787704-chr8:124789123..124792007,2	K562	blood:
2	chr20:55706143..55707939-chr8:124783490..124786194,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10087476	0.86[ASN][1000 genomes]
rs10429369	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10481071	0.86[ASN][1000 genomes]
rs10481072	0.86[ASN][1000 genomes]
rs10481073	0.86[ASN][1000 genomes]
rs10481151	0.85[ASN][1000 genomes]
rs11986791	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546891	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12550235	0.93[EUR][1000 genomes]
rs13253599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13270541	0.81[ASN][1000 genomes]
rs13275308	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13278088	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13278192	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1367829	0.81[ASN][1000 genomes]
rs16898871	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1835691	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1966620	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060112	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2272683	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2385515	0.86[ASN][1000 genomes]
rs2385516	0.84[ASN][1000 genomes]
rs28495871	0.86[ASN][1000 genomes]
rs34253744	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34354351	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34850344	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35420592	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3911939	0.82[ASN][1000 genomes]
rs4870867	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871414	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871415	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60068098	0.88[ASN][1000 genomes]
rs6470186	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66515434	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67139073	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67237665	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6985019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6986269	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6986384	0.86[ASN][1000 genomes]
rs6988602	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6990565	0.91[ASN][1000 genomes]
rs6998271	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7004482	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7012004	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014688	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7015861	0.81[ASN][1000 genomes]
rs7017174	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73333742	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73337418	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73337464	0.86[ASN][1000 genomes]
rs73337467	0.86[ASN][1000 genomes]
rs73337469	0.86[ASN][1000 genomes]
rs7815695	0.95[ASN][1000 genomes]
rs7827025	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7846164	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs874205	0.86[ASN][1000 genomes]
rs874206	0.86[ASN][1000 genomes]
rs874207	0.86[ASN][1000 genomes]
rs9297674	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9297675	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297676	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 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	chr8:124781600-124790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:124781800-124786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:124781800-124786200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr8:124781800-124787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:124781800-124788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:124782000-124785800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:124782000-124786000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr8:124782000-124786200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:124782000-124787400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:124782200-124786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:124782200-124786200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:124782200-124786400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:124782200-124786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:124782200-124786800	Weak transcription	Placenta	Placenta
19	chr8:124782200-124787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:124782200-124787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:124782200-124787400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:124782200-124787400	Weak transcription	Fetal Stomach	stomach
23	chr8:124782200-124791000	Weak transcription	Fetal Kidney	kidney
24	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:124782400-124787400	Weak transcription	Fetal Brain Male	brain
26	chr8:124782600-124785800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr8:124782600-124786200	Weak transcription	HSMM	muscle
28	chr8:124782600-124787000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:124782600-124787000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:124782600-124787400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:124782600-124787400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:124782600-124791200	Weak transcription	Esophagus	oesophagus
33	chr8:124782600-124791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:124782600-124793600	Weak transcription	Lung	lung
35	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:124782800-124786000	Enhancers	Primary T cells from cord blood	blood
37	chr8:124782800-124786000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr8:124782800-124789600	Weak transcription	Fetal Lung	lung
39	chr8:124782800-124797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:124783000-124785800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:124783000-124787400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:124783200-124786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:124783200-124786600	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:124783200-124786800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:124783400-124785800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:124783400-124786400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:124783400-124787000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:124783400-124787000	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:124783400-124787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:124783400-124787400	Weak transcription	Colonic Mucosa	Colon

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