Variant report

Variant	rs6465761
Chromosome Location	chr7:99620277-99620278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99618852..99620390-chr7:99647489..99649484,2	MCF-7	breast:
2	chr7:99594172..99596915-chr7:99619216..99620782,2	K562	blood:
3	chr7:99619042..99622957-chr7:99630011..99632854,4	MCF-7	breast:
4	chr7:99620109..99621730-chr7:99637270..99638942,2	MCF-7	breast:
5	chr7:99615508..99617156-chr7:99618905..99620431,2	MCF-7	breast:
6	chr7:99618848..99621935-chr7:99625446..99628535,4	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1015538	0.84[ASN][1000 genomes]
rs10228764	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10267212	0.82[CEU][hapmap]
rs10281368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1076237	0.81[CEU][hapmap]
rs11764584	0.85[YRI][hapmap]
rs11771139	0.83[CHB][hapmap]
rs11771331	0.82[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs12705070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705071	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13223792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13232115	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1534310	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1880949	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1963304	0.84[ASN][1000 genomes]
rs2070215	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2293479	0.83[CEU][hapmap]
rs34031156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35146811	0.95[CHB][hapmap]
rs3823646	0.85[YRI][hapmap]
rs4134903	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4424195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729566	0.82[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4729567	0.86[YRI][hapmap]
rs4729576	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59261051	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465760	0.82[CEU][hapmap]
rs6465762	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950205	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6953441	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974305	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7788746	0.82[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7807641	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	esv1828362	chr7:99530233-99628773	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv1830255	chr7:99544908-99626331	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	esv1825207	chr7:99552275-99625510	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1829545	chr7:99553071-99626386	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv1825655	chr7:99554378-99626186	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv1828702	chr7:99554757-99624145	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1831603	chr7:99554769-99624157	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	esv1831741	chr7:99563961-99626295	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	esv1826228	chr7:99564091-99625688	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	esv1830115	chr7:99564091-99625688	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv19900	chr7:99564133-99625411	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv1833207	chr7:99564276-99628466	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv1827474	chr7:99564291-99626186	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	esv32694	chr7:99565608-99629919	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	esv1831013	chr7:99566252-99621841	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
19	esv1828033	chr7:99566252-99634770	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	esv1830934	chr7:99566264-99624157	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
21	esv1828426	chr7:99566264-99626343	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
22	esv1827496	chr7:99566264-99634782	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
23	esv1826730	chr7:99567455-99626295	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
24	esv1833435	chr7:99567455-99626295	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
25	esv1829558	chr7:99569394-99626331	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
26	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
27	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
28	esv1826763	chr7:99583219-99626295	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
29	esv1824630	chr7:99614770-99639445	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6465761	TAF6	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99614200-99620400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:99614200-99621200	Weak transcription	Aorta	Aorta
3	chr7:99614200-99639000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:99614400-99620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:99614400-99620800	Weak transcription	Left Ventricle	heart
6	chr7:99614400-99628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:99614600-99620400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:99614600-99620400	Enhancers	Stomach Mucosa	stomach
9	chr7:99614600-99620800	Weak transcription	Right Ventricle	heart
10	chr7:99614600-99621200	Weak transcription	Psoas Muscle	Psoas
11	chr7:99614600-99628400	Weak transcription	Right Atrium	heart
12	chr7:99614800-99620600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:99615000-99632000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:99615200-99621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:99615200-99621000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:99615200-99636400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:99615200-99637800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:99615400-99620600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:99615400-99621000	Weak transcription	Fetal Brain Male	brain
20	chr7:99615400-99621000	Weak transcription	Small Intestine	intestine
21	chr7:99615400-99621400	Weak transcription	NH-A	brain
22	chr7:99615400-99626000	Weak transcription	Fetal Heart	heart
23	chr7:99615400-99639600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:99615600-99620800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:99615600-99621000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:99615600-99621200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:99615600-99621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:99615600-99621200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:99615600-99625800	Strong transcription	Fetal Thymus	thymus
30	chr7:99616000-99625800	Strong transcription	Osteobl	bone
31	chr7:99616400-99622000	Genic enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:99616400-99622200	Genic enhancers	HepG2	liver
33	chr7:99616400-99625200	Strong transcription	Primary T cells from cord blood	blood
34	chr7:99616400-99636200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:99616800-99620400	Weak transcription	Gastric	stomach
36	chr7:99617000-99621200	Weak transcription	Ovary	ovary
37	chr7:99617200-99621200	Weak transcription	Esophagus	oesophagus
38	chr7:99617200-99623400	Strong transcription	K562	blood
39	chr7:99617200-99625600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:99617400-99620800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:99617600-99620400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:99617800-99620400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:99618000-99621000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:99618200-99620400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:99618800-99621400	Genic enhancers	Duodenum Mucosa	Duodenum
46	chr7:99618800-99630800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:99618800-99636400	Strong transcription	Dnd41	blood
48	chr7:99619000-99625000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:99619000-99625600	Strong transcription	NHLF	lung
50	chr7:99619000-99636000	Strong transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links