Variant report

Variant	rs6460223
Chromosome Location	chr7:64467674-64467675
allele	C/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	REST	chr7:64466257-64467711	H1-neurons	neurons:	n/a	n/a
2	HEY1	chr7:64466378-64467833	HepG2	liver:	n/a	n/a
3	MAX	chr7:64466862-64467731	NB4	blood:	n/a	chr7:64466879-64466889
4	POLR2A	chr7:64466795-64467767	HL-60	blood:	n/a	n/a
5	SPI1	chr7:64467486-64467769	GM12891	blood:	n/a	n/a
6	MYC	chr7:64466661-64467770	K562	blood:	n/a	chr7:64466879-64466889
7	NR2F2	chr7:64466729-64467738	K562	blood:	n/a	n/a
8	ZNF263	chr7:64466607-64467855	HEK293-T-REx	kidney:	n/a	chr7:64467252-64467261
9	SPI1	chr7:64467010-64467742	HL-60	blood:	n/a	n/a
10	POLR2A	chr7:64466534-64467803	PFSK-1	brain:	n/a	n/a
11	SPI1	chr7:64467490-64467755	GM12878	blood:	n/a	n/a
12	MTA3	chr7:64466662-64467699	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:64466475-64467692	GM12891	blood:	n/a	n/a
14	SPI1	chr7:64467488-64467728	GM12891	blood:	n/a	n/a
15	POLR2A	chr7:64466512-64467756	GM12892	blood:	n/a	n/a
16	JUND	chr7:64466593-64467779	K562	blood:	n/a	n/a
17	TEAD4	chr7:64466452-64467815	K562	blood:	n/a	n/a
18	SPI1	chr7:64467459-64467746	K562	blood:	n/a	n/a
19	SPI1	chr7:64467502-64467711	K562	blood:	n/a	n/a
20	RCOR1	chr7:64466633-64467776	K562	blood:	n/a	n/a
21	MYC	chr7:64466844-64467755	NB4	blood:	n/a	chr7:64466879-64466889
22	HCFC1	chr7:64466760-64467680	K562	blood:	n/a	n/a
23	RFX5	chr7:64465813-64467805	SK-N-SH	brain:	n/a	chr7:64467144-64467153
24	POLR2A	chr7:64466547-64468030	HepG2	liver:	n/a	n/a
25	CBX3	chr7:64466618-64467857	K562	blood:	n/a	n/a
26	MAZ	chr7:64466470-64467767	K562	blood:	n/a	chr7:64466879-64466889
27	MAX	chr7:64467435-64467793	K562	blood:	n/a	n/a
28	PML	chr7:64466333-64467682	K562	blood:	n/a	n/a
29	RUNX3	chr7:64466467-64467727	GM12878	blood:	n/a	n/a
30	MYC	chr7:64466881-64467763	K562	blood:	n/a	n/a
31	ATF1	chr7:64466955-64467750	K562	blood:	n/a	n/a
32	POLR2A	chr7:64466541-64467733	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64465846..64468983-chr7:64497347..64500243,4	MCF-7	breast:
2	chr7:64465739..64467675-chr7:64497142..64500012,3	MCF-7	breast:
3	chr7:64467103..64469967-chr7:64496870..64499849,2	K562	blood:

Variant related genes	Relation type
ZNF117	TF binding region
ERV3-1	TF binding region
ENSG00000234585	Chromatin interaction
ENSG00000239985	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10241221	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10248989	0.83[AMR][1000 genomes]
rs10253907	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10268911	0.90[AMR][1000 genomes]
rs10277801	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1060382	0.80[AFR][1000 genomes]
rs10807685	0.83[AFR][1000 genomes]
rs10807688	1.00[AMR][1000 genomes]
rs10949965	0.83[AMR][1000 genomes]
rs11768146	0.83[AMR][1000 genomes]
rs11771328	0.91[AMR][1000 genomes]
rs11972247	0.83[AFR][1000 genomes]
rs11978819	0.83[AFR][1000 genomes]
rs12234848	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12334031	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13222878	0.82[AFR][1000 genomes]
rs13229671	0.88[AFR][1000 genomes]
rs13229816	0.88[AFR][1000 genomes]
rs13230970	0.80[AFR][1000 genomes]
rs13232354	0.83[AMR][1000 genomes]
rs13233340	0.83[AMR][1000 genomes]
rs1404453	0.80[AFR][1000 genomes]
rs1464806	0.80[AMR][1000 genomes]
rs1524821	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1589816	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1608712	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1608713	0.80[AFR][1000 genomes]
rs1608716	0.80[AFR][1000 genomes]
rs1608717	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs1709519	1.00[AMR][1000 genomes]
rs1815140	0.83[AMR][1000 genomes]
rs1830008	0.83[AMR][1000 genomes]
rs1852015	0.80[AFR][1000 genomes]
rs1852016	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1970879	0.80[AFR][1000 genomes]
rs1971427	0.84[AFR][1000 genomes]
rs1972156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2049441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2177660	0.88[AFR][1000 genomes]
rs28411715	0.82[AFR][1000 genomes]
rs28566658	0.91[AMR][1000 genomes]
rs34216774	0.82[AFR][1000 genomes]
rs3857672	0.83[AMR][1000 genomes]
rs4146028	0.83[AMR][1000 genomes]
rs4380813	0.83[AMR][1000 genomes]
rs4422675	1.00[AMR][1000 genomes]
rs4618579	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs4717229	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs4717231	0.83[AMR][1000 genomes]
rs4718173	0.80[AFR][1000 genomes]
rs4718174	0.80[AFR][1000 genomes]
rs4718175	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4718176	0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4718179	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs4718184	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6460215	0.81[AFR][1000 genomes]
rs6460219	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs6460220	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6944240	0.80[AFR][1000 genomes]
rs6944390	0.80[AMR][1000 genomes]
rs6949548	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6959107	0.83[AMR][1000 genomes]
rs7781025	0.83[AFR][1000 genomes]
rs7784273	0.88[AFR][1000 genomes]
rs7784866	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7789630	0.81[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7790578	0.80[AFR][1000 genomes]
rs7790622	1.00[AMR][1000 genomes]
rs7791069	0.91[AMR][1000 genomes]
rs7796144	0.98[AFR][1000 genomes]
rs7799463	0.80[AFR][1000 genomes]
rs7803418	0.89[AFR][1000 genomes]
rs7810102	0.80[AFR][1000 genomes]
rs7812013	0.83[AFR][1000 genomes]
rs940588	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9638214	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9638416	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
6	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv970505	chr7:64441807-64494987	ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
19	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
20	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64464800-64467800	Enhancers	Fetal Heart	heart
2	chr7:64466400-64467800	Active TSS	Brain Anterior Caudate	brain
3	chr7:64467200-64467800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr7:64467200-64467800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr7:64467200-64467800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:64467200-64467800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:64467200-64467800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr7:64467200-64467800	Enhancers	Placenta	Placenta
9	chr7:64467200-64467800	Flanking Active TSS	Dnd41	blood
10	chr7:64467200-64467800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:64467200-64468600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:64467400-64467800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:64467400-64467800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:64467400-64467800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:64467400-64467800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:64467400-64467800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:64467400-64467800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:64467400-64467800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:64467400-64467800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:64467400-64467800	Enhancers	Colon Smooth Muscle	Colon
21	chr7:64467400-64467800	Enhancers	Fetal Intestine Large	intestine
22	chr7:64467400-64467800	Enhancers	Fetal Stomach	stomach
23	chr7:64467400-64467800	Enhancers	Fetal Thymus	thymus
24	chr7:64467400-64467800	Enhancers	Spleen	Spleen
25	chr7:64467400-64467800	Flanking Active TSS	GM12878-XiMat	blood
26	chr7:64467400-64467800	Enhancers	Hela-S3	cervix
27	chr7:64467400-64467800	Flanking Active TSS	HepG2	liver
28	chr7:64467400-64467800	Enhancers	HUVEC	blood vessel
29	chr7:64467600-64467800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:64467600-64467800	Enhancers	Primary B cells from peripheral blood	blood
31	chr7:64467600-64467800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:64467600-64467800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:64467600-64467800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:64467600-64467800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr7:64467600-64467800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:64467600-64467800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:64467600-64467800	Active TSS	Adipose Nuclei	Adipose
38	chr7:64467600-64467800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:64467600-64467800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:64467600-64467800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:64467600-64467800	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:64467600-64467800	Enhancers	K562	blood
43	chr7:64467600-64468000	Enhancers	Primary B cells from cord blood	blood

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