Variant report

Variant	rs10276699
Chromosome Location	chr7:7604045-7604046
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	PRDM1	chr7:7603685-7604444	Hela-S3	cervix:	n/a	n/a
2	EP300	chr7:7603890-7604564	Hela-S3	cervix:	n/a	chr7:7603945-7603954
3	EP300	chr7:7603984-7604342	SK-N-SH_RA	brain:	n/a	n/a
4	HDAC2	chr7:7603883-7604444	MCF-7	breast:	n/a	chr7:7603957-7603971 chr7:7603956-7603970 chr7:7603988-7603997 chr7:7603959-7603973 chr7:7603961-7603975
5	CBX3	chr7:7603814-7604499	HCT-116	colon:	n/a	n/a
6	JUND	chr7:7603727-7604456	MCF-7	breast:	n/a	chr7:7604137-7604148
7	ELK1	chr7:7604005-7604350	Hela-S3	cervix:	n/a	n/a
8	SP1	chr7:7603822-7604457	A549	lung:	n/a	n/a
9	MAFK	chr7:7603759-7604436	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr7:7603875-7604428	MCF-7	breast:	n/a	n/a
11	TEAD4	chr7:7603954-7604394	A549	lung:	n/a	n/a
12	TFAP2C	chr7:7603862-7604561	Hela-S3	cervix:	n/a	chr7:7604189-7604204
13	RFX5	chr7:7603891-7604395	Hela-S3	cervix:	n/a	n/a
14	JUND	chr7:7603969-7604260	HepG2	liver:	n/a	chr7:7604137-7604148
15	ZNF217	chr7:7603608-7604514	MCF-7	breast:	n/a	n/a
16	JUND	chr7:7603756-7604390	Hela-S3	cervix:	n/a	chr7:7604137-7604148
17	MAX	chr7:7603854-7604580	HCT-116	colon:	n/a	n/a
18	SMC3	chr7:7603949-7604448	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr7:7603937-7604445	A549	lung:	n/a	n/a
20	JUN	chr7:7603754-7604491	K562	blood:	n/a	n/a
21	MYC	chr7:7603999-7604374	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr7:7603715-7604537	A549	lung:	n/a	chr7:7603943-7603953 chr7:7603987-7603997 chr7:7603989-7603996 chr7:7603987-7603996
23	KAP1	chr7:7603789-7604437	HEK293	kidney:	n/a	n/a
24	TCF7L2	chr7:7603930-7604402	Hela-S3	cervix:	n/a	chr7:7604074-7604084 chr7:7604072-7604086
25	MYC	chr7:7604040-7604267	K562	blood:	n/a	n/a
26	FOSL2	chr7:7603820-7604257	SK-N-SH	brain:	n/a	n/a
27	SP1	chr7:7603717-7604548	HCT-116	colon:	n/a	n/a
28	FOXA1	chr7:7603919-7604366	T-47D	breast:	n/a	n/a
29	FOS	chr7:7603888-7604364	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr7:7604042-7604267	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr7:7604009-7604415	MCF10A-Er-Src	breast:	n/a	n/a
32	RAD21	chr7:7604009-7604344	Hela-S3	cervix:	n/a	n/a
33	TCF7L2	chr7:7603861-7604513	Hela-S3	cervix:	n/a	chr7:7604074-7604084 chr7:7604072-7604086
34	SP1	chr7:7603806-7604408	A549	lung:	n/a	n/a
35	SIN3AK20	chr7:7603709-7604640	MCF-7	breast:	n/a	n/a
36	TCF12	chr7:7603864-7604508	SK-N-SH	brain:	n/a	n/a
37	GTF2F1	chr7:7603853-7604514	Hela-S3	cervix:	n/a	n/a
38	HDAC2	chr7:7603834-7604501	MCF-7	breast:	n/a	chr7:7603957-7603971 chr7:7603956-7603970 chr7:7603988-7603997 chr7:7603959-7603973 chr7:7603961-7603975
39	SMARCC1	chr7:7603662-7604948	Hela-S3	cervix:	n/a	n/a
40	FOS	chr7:7603946-7604339	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr7:7603979-7604448	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr7:7603776-7604408	Hela-S3	cervix:	n/a	n/a
43	GATA3	chr7:7603793-7604468	MCF-7	breast:	n/a	chr7:7603943-7603953 chr7:7603987-7603997 chr7:7603989-7603996 chr7:7603987-7603996
44	JUND	chr7:7603954-7604361	K562	blood:	n/a	chr7:7604137-7604148
45	CEBPB	chr7:7603786-7604554	HCT-116	colon:	n/a	n/a
46	BRCA1	chr7:7603891-7604397	Hela-S3	cervix:	n/a	n/a
47	FOSL1	chr7:7603769-7604570	HCT-116	colon:	n/a	n/a
48	MYC	chr7:7604014-7604383	MCF10A-Er-Src	breast:	n/a	n/a
49	FOSL2	chr7:7603796-7604523	MCF-7	breast:	n/a	n/a
50	CEBPB	chr7:7603978-7604399	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7601559..7604327-chr7:8300528..8302351,2	MCF-7	breast:
2	chr7:7602591..7604094-chr7:7678775..7680350,2	K562	blood:
3	chr7:7602250..7604116-chr7:7605056..7607098,3	K562	blood:
4	chr7:7603096..7605323-chr7:7605419..7606942,2	MCF-7	breast:
5	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272894	TF binding region
MIOS	TF binding region
ENSG00000229970	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000003147	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000244239	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10235484	1.00[EUR][1000 genomes]
rs10247234	1.00[TSI][hapmap]
rs10486164	1.00[JPT][hapmap]
rs10486183	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438746	1.00[TSI][hapmap]
rs17168704	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169036	1.00[GIH][hapmap]
rs17462946	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464197	0.87[EUR][1000 genomes]
rs17521499	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521814	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521904	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17522077	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17522625	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978190	0.89[ASN][1000 genomes]
rs28488380	0.85[AFR][1000 genomes]
rs3757531	1.00[ASN][1000 genomes]
rs3757532	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs60654515	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957976	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6969871	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782178	1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887473	chr7:7497676-7604913	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7589400-7605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:7590000-7606000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:7590000-7606200	Weak transcription	Ovary	ovary
4	chr7:7590200-7605800	Weak transcription	Brain Anterior Caudate	brain
5	chr7:7590200-7605800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:7593800-7606000	Weak transcription	Right Atrium	heart
7	chr7:7595800-7605600	Weak transcription	Fetal Kidney	kidney
8	chr7:7597000-7605400	Weak transcription	Lung	lung
9	chr7:7597200-7604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:7597200-7606600	Weak transcription	Gastric	stomach
11	chr7:7597800-7606000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:7599200-7605800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:7600000-7606000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:7601600-7605000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:7602200-7604600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:7602200-7605800	Enhancers	Liver	Liver
17	chr7:7602400-7605800	Enhancers	Stomach Mucosa	stomach
18	chr7:7602600-7605000	Enhancers	Placenta	Placenta
19	chr7:7602800-7606400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:7603000-7605200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:7603000-7605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:7603200-7604800	Enhancers	Fetal Intestine Small	intestine
23	chr7:7603400-7604400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:7603400-7606000	Enhancers	HMEC	breast
25	chr7:7603600-7604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:7603600-7604200	Enhancers	Pancreas	Pancrea
27	chr7:7603600-7604400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:7603600-7604400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:7603600-7604400	Flanking Active TSS	Hela-S3	cervix
30	chr7:7603600-7604600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:7603600-7604600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:7603600-7604600	Enhancers	Fetal Intestine Large	intestine
33	chr7:7603600-7604600	Enhancers	NH-A	brain
34	chr7:7603600-7604800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:7603600-7604800	Enhancers	HSMMtube	muscle
36	chr7:7603600-7604800	Enhancers	K562	blood
37	chr7:7603600-7604800	Enhancers	Osteobl	bone
38	chr7:7603600-7605400	Enhancers	NHDF-Ad	bronchial
39	chr7:7603600-7605800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:7603600-7606200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:7603600-7606400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr7:7603800-7604600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:7603800-7604600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:7603800-7605400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:7603800-7605400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:7603800-7605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:7603800-7605800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:7603800-7605800	Weak transcription	HepG2	liver
49	chr7:7603800-7606000	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:7603800-7606000	Enhancers	HSMM	muscle

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