Variant report

Variant	rs773069
Chromosome Location	chr8:42749688-42749689
allele	G/T
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	GATA1	chr8:42748516-42749931	PBDE	blood:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749018-42749030
2	GATA3	chr8:42749275-42749784	T-47D	breast:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749621-42749637 chr8:42749490-42749498
3	KAP1	chr8:42748513-42749722	HEK293	kidney:	n/a	n/a
4	EP300	chr8:42749268-42749769	MCF-7	breast:	n/a	n/a
5	CEBPD	chr8:42749250-42749778	K562	blood:	n/a	n/a
6	JUN	chr8:42748671-42749801	K562	blood:	n/a	chr8:42749522-42749530
7	NR2F2	chr8:42748747-42749793	MCF-7	breast:	n/a	n/a
8	GATA2	chr8:42749301-42749706	K562	blood:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749621-42749637 chr8:42749486-42749500
9	ZNF384	chr8:42749298-42749736	K562	blood:	n/a	n/a
10	CEBPD	chr8:42749279-42749737	K562	blood:	n/a	n/a
11	GATA3	chr8:42748544-42750051	MCF-7	breast:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030
12	TCF12	chr8:42748661-42749769	SK-N-SH	brain:	n/a	n/a
13	FOSL2	chr8:42749260-42749768	MCF-7	breast:	n/a	chr8:42749522-42749530
14	POLR2A	chr8:42748453-42749852	PBDE	blood:	n/a	n/a
15	GATA3	chr8:42748895-42749730	MCF-7	breast:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030
16	JUN	chr8:42749348-42749694	K562	blood:	n/a	chr8:42749522-42749530
17	EP300	chr8:42749232-42749835	MCF-7	breast:	n/a	n/a
18	GATA2	chr8:42748882-42749692	SH-SY5Y	brain:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749486-42749500 chr8:42749018-42749030
19	GATA3	chr8:42748488-42749847	SK-N-SH	brain:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030
20	MYC	chr8:42748950-42749701	K562	blood:	n/a	n/a
21	GATA1	chr8:42748510-42749828	K562	blood:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749018-42749030
22	CREB1	chr8:42749239-42749825	K562	blood:	n/a	n/a
23	MAX	chr8:42748774-42749816	MCF-7	breast:	n/a	n/a
24	GATA2	chr8:42749252-42749768	K562	blood:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749621-42749637 chr8:42749486-42749500
25	TCF12	chr8:42748774-42749748	SK-N-SH	brain:	n/a	n/a
26	ZNF217	chr8:42748835-42749738	MCF-7	breast:	n/a	n/a
27	CREB1	chr8:42749117-42749941	K562	blood:	n/a	n/a
28	KAP1	chr8:42748899-42749702	U2OS	brain:	n/a	n/a
29	ESR1	chr8:42748844-42749793	T-47D	breast:	n/a	n/a
30	ESR1	chr8:42749368-42749713	T-47D	breast:	n/a	n/a
31	EP300	chr8:42748639-42749690	K562	blood:	n/a	n/a
32	GATA2	chr8:42748721-42749741	HUVEC	blood vessel:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749486-42749500 chr8:42749018-42749030
33	RCOR1	chr8:42748826-42749786	K562	blood:	n/a	n/a
34	MAX	chr8:42748864-42749756	SK-N-SH	brain:	n/a	n/a
35	MYC	chr8:42748873-42749708	K562	blood:	n/a	n/a
36	MAX	chr8:42748857-42749757	SK-N-SH	brain:	n/a	n/a
37	ESR1	chr8:42749313-42749769	T-47D	breast:	n/a	n/a
38	PBX3	chr8:42749222-42749781	SK-N-SH	brain:	n/a	n/a
39	SIN3AK20	chr8:42748650-42749963	MCF-7	breast:	n/a	n/a
40	GATA3	chr8:42748637-42749787	SK-N-SH	brain:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030
41	GATA3	chr8:42748738-42749725	MCF-7	breast:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030
42	CBX3	chr8:42749279-42749863	K562	blood:	n/a	n/a
43	JUND	chr8:42748925-42749733	K562	blood:	n/a	chr8:42749522-42749530
44	POLR2A	chr8:42748961-42749712	K562	blood:	n/a	n/a
45	MAX	chr8:42749335-42749694	K562	blood:	n/a	n/a
46	FOSL2	chr8:42749259-42749749	SK-N-SH	brain:	n/a	chr8:42749522-42749530
47	ESR1	chr8:42749311-42749706	T-47D	breast:	n/a	n/a
48	ESR1	chr8:42749277-42749738	T-47D	breast:	n/a	n/a
49	GATA3	chr8:42748496-42749748	T-47D	breast:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030
50	GATA3	chr8:42748663-42749838	MCF-7	breast:	n/a	chr8:42749491-42749500 chr8:42749491-42749498 chr8:42749491-42749500 chr8:42749621-42749637 chr8:42749491-42749498 chr8:42749623-42749635 chr8:42749018-42749025 chr8:42749491-42749498 chr8:42749490-42749500 chr8:42749016-42749032 chr8:42749621-42749637 chr8:42749490-42749498 chr8:42749018-42749030

No.	Distal block	Cell Line	Cell type
1	chr8:42742667..42744267-chr8:42748653..42750322,2	K562	blood:
2	chr8:42747025..42751990-chr8:42908756..42912609,5	MCF-7	breast:
3	chr8:42748894..42750702-chr8:42905797..42908488,2	MCF-7	breast:
4	chr8:42749514..42753230-chr8:42909984..42914905,15	K562	blood:
5	chr8:42749450..42753570-chr8:42908450..42913824,10	K562	blood:
6	chr8:42696846..42699978-chr8:42747946..42753140,10	MCF-7	breast:
7	chr8:42695291..42700486-chr8:42749376..42753818,20	K562	blood:
8	chr8:42749163..42753793-chr8:42909851..42913083,6	MCF-7	breast:
9	chr8:42695855..42700016-chr8:42746812..42754296,18	MCF-7	breast:
10	chr8:42696684..42700108-chr8:42749367..42753632,16	K562	blood:
11	chr12:33762272..33764150-chr8:42748547..42750407,2	MCF-7	breast:
12	chr8:42749464..42752003-chr8:42994418..42997135,2	K562	blood:
13	chr8:42701524..42703280-chr8:42749314..42751061,2	MCF-7	breast:

Variant related genes	Relation type
HOOK3	TF binding region
ENSG00000168522	Chromatin interaction
ENSG00000131931	Chromatin interaction
ENSG00000165102	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10087388	0.92[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10107916	0.90[ASN][1000 genomes]
rs1081884	0.89[ASN][1000 genomes]
rs1081885	0.95[ASN][1000 genomes]
rs1081886	0.97[ASN][1000 genomes]
rs10958736	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes]
rs11986681	0.81[CEU][hapmap]
rs11986893	0.86[CHB][hapmap]
rs13251524	0.81[CEU][hapmap]
rs13257298	0.81[CEU][hapmap]
rs13261180	0.83[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs1620525	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs1625050	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs1648119	0.92[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs1648120	0.87[ASN][1000 genomes]
rs1648121	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16891647	0.84[MEX][hapmap]
rs2692077	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28539345	0.95[ASN][1000 genomes]
rs28626408	0.84[AMR][1000 genomes]
rs4236927	0.81[JPT][hapmap];0.89[MEX][hapmap]
rs4294230	0.84[AMR][1000 genomes]
rs6474429	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs6986338	0.95[ASN][1000 genomes]
rs7014595	0.81[CEU][hapmap]
rs7463608	0.82[AMR][1000 genomes]
rs773068	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs773070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs773071	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs773072	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs7812948	0.95[ASN][1000 genomes]
rs7829867	0.81[CEU][hapmap]
rs7831069	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835435	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838899	0.82[AMR][1000 genomes]
rs7841772	0.87[AMR][1000 genomes]
rs798827	0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42719800-42750600	Weak transcription	Esophagus	oesophagus
3	chr8:42738200-42750400	Weak transcription	Gastric	stomach
4	chr8:42745200-42750400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:42745800-42750600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:42745800-42750600	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:42745800-42750800	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:42746000-42749800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:42746000-42750200	Enhancers	HepG2	liver
10	chr8:42746200-42750600	Enhancers	Primary B cells from cord blood	blood
11	chr8:42747000-42750800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:42747600-42749800	Weak transcription	Spleen	Spleen
13	chr8:42748200-42749800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:42748200-42750400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:42748400-42749800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr8:42748400-42749800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:42748400-42749800	Enhancers	HSMMtube	muscle
18	chr8:42748400-42750000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr8:42748400-42750200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:42748400-42750400	Enhancers	Primary T cells from cord blood	blood
21	chr8:42748400-42750400	Enhancers	Liver	Liver
22	chr8:42748400-42750400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:42748400-42750400	Enhancers	Fetal Heart	heart
24	chr8:42748400-42750400	Enhancers	Fetal Intestine Large	intestine
25	chr8:42748400-42750400	Enhancers	Fetal Intestine Small	intestine
26	chr8:42748400-42750400	Enhancers	Left Ventricle	heart
27	chr8:42748400-42750800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:42748600-42749800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:42748600-42749800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:42748600-42749800	Enhancers	Fetal Thymus	thymus
31	chr8:42748600-42749800	Enhancers	A549	lung
32	chr8:42748600-42749800	Flanking Active TSS	HUVEC	blood vessel
33	chr8:42748600-42749800	Flanking Active TSS	K562	blood
34	chr8:42748600-42749800	Flanking Active TSS	NHEK	skin
35	chr8:42748600-42750000	Enhancers	Hela-S3	cervix
36	chr8:42748600-42750200	Enhancers	Osteobl	bone
37	chr8:42748600-42750400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:42748600-42750400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:42748600-42750400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:42748600-42750400	Enhancers	Fetal Muscle Leg	muscle
41	chr8:42748600-42750400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr8:42748600-42750800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr8:42748600-42750800	Enhancers	Stomach Mucosa	stomach
44	chr8:42748800-42749800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr8:42748800-42749800	Flanking Active TSS	HMEC	breast
46	chr8:42748800-42750200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:42748800-42750400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:42748800-42750600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:42748800-42750600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:42748800-42750600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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