Variant report

Variant	rs7012004
Chromosome Location	chr8:124789417-124789418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:124789116-124789701	SK-N-SH	brain:	n/a	chr8:124789237-124789249
2	CTCF	chr8:124789280-124789430	AG09319	gingival:	n/a	n/a
3	CTCF	chr8:124789280-124789430	BE2_C	brain:	n/a	n/a
4	CTCF	chr8:124789300-124789450	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr8:124789240-124789496	IMR90	lung:	n/a	n/a
6	RAD21	chr8:124789065-124789640	HCT-116	colon:	n/a	chr8:124789237-124789249
7	CTCF	chr8:124789280-124789430	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr8:124789178-124789514	GM12878	blood:	n/a	n/a
9	RAD21	chr8:124789203-124789458	SK-N-SH_RA	brain:	n/a	chr8:124789237-124789249
10	CTCF	chr8:124789057-124789600	HCT-116	colon:	n/a	n/a
11	CTCF	chr8:124789320-124789470	HAc	cerebellar:	n/a	n/a
12	CTCF	chr8:124789380-124789530	HMEC	breast:	n/a	n/a
13	CTCF	chr8:124789320-124789470	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr8:124789300-124789450	AG09309	skin:	n/a	n/a
15	CTCF	chr8:124789280-124789430	HCFaa	heart:	n/a	n/a
16	CTCF	chr8:124789271-124789448	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr8:124789400-124789550	A549	lung:	n/a	n/a
18	CTCF	chr8:124789280-124789430	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr8:124789320-124789470	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr8:124789300-124789450	HMF	breast:	n/a	n/a
21	CTCF	chr8:124789300-124789450	HEEpiC	esophagus:	n/a	n/a
22	RAD21	chr8:124789208-124789540	IMR90	lung:	n/a	chr8:124789237-124789249
23	RAD21	chr8:124789183-124789471	HCT-116	colon:	n/a	chr8:124789237-124789249
24	RAD21	chr8:124789203-124789525	Hela-S3	cervix:	n/a	chr8:124789237-124789249
25	SMC3	chr8:124789240-124789480	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr8:124789340-124789490	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr8:124789280-124789430	AG04449	skin:	n/a	n/a
28	RAD21	chr8:124789193-124789452	SK-N-SH_RA	brain:	n/a	chr8:124789237-124789249
29	RAD21	chr8:124789191-124789545	A549	lung:	n/a	chr8:124789237-124789249
30	CTCF	chr8:124789292-124789492	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124788913..124789799-chr8:124934541..124935295,2	MCF-7	breast:
2	chr8:124785385..124787704-chr8:124789123..124792007,2	K562	blood:
3	chr8:124787182..124791355-chr8:124797732..124801371,3	K562	blood:
4	chr8:124427517..124430529-chr8:124788729..124791516,3	MCF-7	breast:

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10087476	0.97[ASN][1000 genomes]
rs10102074	0.85[ASN][1000 genomes]
rs10429369	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10481071	0.97[ASN][1000 genomes]
rs10481072	0.97[ASN][1000 genomes]
rs10481073	0.97[ASN][1000 genomes]
rs10481151	0.96[ASN][1000 genomes]
rs11986791	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541177	0.90[ASN][1000 genomes]
rs12546891	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549683	0.90[ASN][1000 genomes]
rs12550235	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13253599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261392	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13270541	0.91[ASN][1000 genomes]
rs13275308	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13278192	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1367829	0.91[ASN][1000 genomes]
rs16898871	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1835691	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1966620	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060112	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272683	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385515	0.97[ASN][1000 genomes]
rs2385516	0.94[ASN][1000 genomes]
rs28495871	0.97[ASN][1000 genomes]
rs34253744	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34354351	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34850344	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35420592	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3911939	0.93[ASN][1000 genomes]
rs4870867	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871414	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871415	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60068098	0.94[ASN][1000 genomes]
rs6470186	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66474276	0.90[ASN][1000 genomes]
rs66515434	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67139073	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67237665	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67958403	0.90[ASN][1000 genomes]
rs6985019	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986269	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986384	0.97[ASN][1000 genomes]
rs6988602	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990565	0.80[ASN][1000 genomes]
rs6998271	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004482	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7014688	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7015861	0.91[ASN][1000 genomes]
rs7017174	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73333742	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73337418	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73337464	0.97[ASN][1000 genomes]
rs73337467	0.97[ASN][1000 genomes]
rs73337469	0.97[ASN][1000 genomes]
rs7815695	0.85[ASN][1000 genomes]
rs7827025	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827665	0.85[ASN][1000 genomes]
rs7828192	0.85[ASN][1000 genomes]
rs7833650	0.89[ASN][1000 genomes]
rs7846164	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs874205	0.97[ASN][1000 genomes]
rs874206	0.97[ASN][1000 genomes]
rs874207	0.97[ASN][1000 genomes]
rs9297674	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9297675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297676	0.97[ASN][1000 genomes]
rs9918907	0.90[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	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

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	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:124782200-124791000	Weak transcription	Fetal Kidney	kidney
5	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:124782600-124791200	Weak transcription	Esophagus	oesophagus
7	chr8:124782600-124791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:124782600-124793600	Weak transcription	Lung	lung
9	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124782800-124789600	Weak transcription	Fetal Lung	lung
11	chr8:124782800-124797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:124783400-124791400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:124783400-124796000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:124783600-124790800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:124783600-124794000	Weak transcription	Psoas Muscle	Psoas
16	chr8:124783600-124795200	Weak transcription	Aorta	Aorta
17	chr8:124783600-124797400	Weak transcription	Right Ventricle	heart
18	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
19	chr8:124785200-124790000	Strong transcription	NHLF	lung
20	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
24	chr8:124786200-124803000	Strong transcription	HMEC	breast
25	chr8:124786200-124814400	Strong transcription	HSMM	muscle
26	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:124786200-124815400	Strong transcription	Dnd41	blood
28	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:124786400-124796200	Strong transcription	K562	blood
30	chr8:124786400-124805400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:124786800-124801200	Strong transcription	HepG2	liver
36	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
37	chr8:124787000-124789800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:124787000-124790400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:124787000-124791400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:124787000-124792600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:124787000-124813800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:124787400-124789800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:124787400-124789800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:124787400-124790000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:124787400-124790000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr8:124787400-124790200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:124787400-124790200	Strong transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links