Variant report

Variant	rs3823815
Chromosome Location	chr7:8300842-8300843
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	ELF1	chr7:8300829-8301221	K562	blood:	n/a	n/a
2	MAX	chr7:8300432-8302566	MCF-7	breast:	n/a	chr7:8300605-8300614
3	MAX	chr7:8300833-8302605	HCT-116	colon:	n/a	n/a
4	TFAP2C	chr7:8300787-8301988	Hela-S3	cervix:	n/a	n/a
5	MYC	chr7:8300538-8301068	MCF10A-Er-Src	breast:	n/a	chr7:8300605-8300614
6	UBTF	chr7:8300467-8302342	K562	blood:	n/a	n/a
7	FOS	chr7:8300228-8302669	HUVEC	blood vessel:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300605-8300614 chr7:8300604-8300615 chr7:8300606-8300614
8	POLR2A	chr7:8300721-8302460	HCT-116	colon:	n/a	n/a
9	MXI1	chr7:8298200-8304061	SK-N-SH	brain:	n/a	n/a
10	MAZ	chr7:8300789-8302348	K562	blood:	n/a	n/a
11	EP300	chr7:8300180-8301212	K562	blood:	n/a	chr7:8300605-8300614 chr7:8300606-8300615
12	POLR2A	chr7:8300827-8302066	Hela-S3	cervix:	n/a	n/a
13	YY1	chr7:8300780-8301127	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr7:8300842-8301215	ECC-1	luminal epithelium:	n/a	n/a
15	SIN3AK20	chr7:8300471-8302542	MCF-7	breast:	n/a	n/a
16	MYC	chr7:8300533-8302414	K562	blood:	n/a	chr7:8300605-8300614
17	FOSL2	chr7:8300321-8300906	MCF-7	breast:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300605-8300614 chr7:8300606-8300614
18	ELK1	chr7:8300798-8301157	K562	blood:	n/a	n/a
19	PML	chr7:8300593-8301286	K562	blood:	n/a	chr7:8300604-8300613
20	JUN	chr7:8300478-8300869	K562	blood:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300605-8300614 chr7:8300606-8300614
21	POLR2A	chr7:8300806-8302111	HUVEC	blood vessel:	n/a	n/a
22	HEY1	chr7:8300823-8301203	K562	blood:	n/a	n/a
23	POLR2A	chr7:8300801-8302345	K562	blood:	n/a	n/a
24	ARID3A	chr7:8300420-8300901	K562	blood:	n/a	n/a
25	POLR2A	chr7:8300685-8301347	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr7:8300488-8302512	MCF10A-Er-Src	breast:	n/a	n/a
27	JUND	chr7:8300373-8302543	K562	blood:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300604-8300615 chr7:8300605-8300614 chr7:8300606-8300614
28	BHLHE40	chr7:8300597-8301032	K562	blood:	n/a	n/a
29	POLR2A	chr7:8300823-8302238	K562	blood:	n/a	n/a
30	POLR2A	chr7:8300755-8303185	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:8300825-8301155	SK-N-SH	brain:	n/a	n/a
32	TBP	chr7:8300588-8302460	K562	blood:	n/a	n/a
33	EP300	chr7:8297240-8304935	SK-N-SH	brain:	n/a	chr7:8301242-8301256 chr7:8302651-8302665 chr7:8302093-8302106 chr7:8303194-8303204 chr7:8300605-8300614 chr7:8303165-8303175 chr7:8301853-8301862 chr7:8300606-8300615 chr7:8301597-8301613 chr7:8301595-8301604
34	POLR2A	chr7:8300559-8302141	HUVEC	blood vessel:	n/a	n/a
35	FOS	chr7:8300448-8301064	MCF10A-Er-Src	breast:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300605-8300614 chr7:8300604-8300615 chr7:8300606-8300614
36	HCFC1	chr7:8300810-8301207	K562	blood:	n/a	n/a
37	POLR2A	chr7:8300545-8302215	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr7:8300836-8303347	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr7:8300814-8301162	K562	blood:	n/a	n/a
40	JUND	chr7:8300300-8303202	SK-N-SH	brain:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300604-8300615 chr7:8300605-8300614 chr7:8300606-8300614
41	BRCA1	chr7:8300690-8300975	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:8300821-8302058	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:8300761-8302482	HCT-116	colon:	n/a	n/a
44	POLR2A	chr7:8300791-8302031	HL-60	blood:	n/a	n/a
45	GABPA	chr7:8300546-8302186	MCF-7	breast:	n/a	chr7:8301595-8301604
46	POLR2A	chr7:8300062-8302108	K562	blood:	n/a	n/a
47	RFX5	chr7:8300560-8301954	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr7:8300740-8300890	HUVEC	blood vessel:	n/a	n/a
49	FOS	chr7:8300202-8301002	MCF10A-Er-Src	breast:	n/a	chr7:8300607-8300614 chr7:8300606-8300615 chr7:8300605-8300614 chr7:8300604-8300615 chr7:8300606-8300614
50	GABPA	chr7:8300798-8301557	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7678479..7681346-chr7:8300009..8302111,2	K562	blood:
2	chr16:18812683..18814346-chr7:8299005..8301772,2	MCF-7	breast:
3	chr7:8272591..8276389-chr7:8300036..8303147,3	MCF-7	breast:
4	chr7:7978772..7980836-chr7:8298772..8301162,2	K562	blood:
5	chr7:8298736..8301504-chr7:8417634..8420051,2	K562	blood:
6	chr7:7601559..7604327-chr7:8300528..8302351,2	MCF-7	breast:
7	chr7:7604819..7606875-chr7:8300807..8302647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229970	TF binding region
ENSG00000244239	TF binding region
ENSG00000219545	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000003147	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000106399	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11769978	0.82[ASN][1000 genomes]
rs2302551	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779356	0.95[ASN][1000 genomes]
rs3779357	0.94[ASN][1000 genomes]
rs3807801	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807803	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807804	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807806	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807807	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807808	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807809	0.82[ASN][1000 genomes]
rs3807810	0.92[ASN][1000 genomes]
rs3823816	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9472	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv949082	chr7:8189594-8494386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv948997	chr7:8189594-8522495	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv915625	chr7:8201631-8554402	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv1033563	chr7:8222805-8512632	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
20	nsv1024586	chr7:8243829-8490078	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	nsv538725	chr7:8243829-8490078	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	nsv949715	chr7:8288705-8522495	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	nsv464308	chr7:8288705-8953858	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
24	nsv606054	chr7:8288705-8953858	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8299800-8301200	Active TSS	Right Atrium	heart
2	chr7:8300000-8301000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:8300000-8301200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:8300000-8302200	Active TSS	Brain Angular Gyrus	brain
5	chr7:8300000-8302600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:8300000-8302600	Active TSS	Right Ventricle	heart
7	chr7:8300000-8304000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:8300200-8301000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:8300200-8302000	Active TSS	Fetal Intestine Large	intestine
10	chr7:8300200-8302200	Active TSS	K562	blood
11	chr7:8300200-8302800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:8300400-8301000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:8300400-8301000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:8300400-8301000	Flanking Active TSS	Hela-S3	cervix
15	chr7:8300400-8301000	Flanking Active TSS	HUVEC	blood vessel
16	chr7:8300400-8301000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:8300400-8301400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:8300400-8302000	Active TSS	Brain Hippocampus Middle	brain
19	chr7:8300400-8302000	Active TSS	NHEK	skin
20	chr7:8300400-8302200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:8300400-8302200	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr7:8300400-8302200	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr7:8300400-8302200	Active TSS	Stomach Mucosa	stomach
24	chr7:8300400-8302400	Active TSS	Fetal Intestine Small	intestine
25	chr7:8300400-8302600	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:8300400-8302800	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:8300400-8302800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr7:8300600-8301000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:8300600-8301000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:8300600-8301000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr7:8300600-8301000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:8300600-8301000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr7:8300600-8301000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:8300600-8301000	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:8300600-8301000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:8300600-8301000	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr7:8300600-8301000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr7:8300600-8301000	Bivalent Enhancer	Dnd41	blood
39	chr7:8300600-8301200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:8300600-8301200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:8300600-8301200	Flanking Active TSS	Liver	Liver
42	chr7:8300600-8301200	Active TSS	Fetal Heart	heart
43	chr7:8300600-8301200	Bivalent/Poised TSS	Thymus	Thymus
44	chr7:8300600-8301600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:8300600-8301600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:8300600-8301800	Active TSS	Colon Smooth Muscle	Colon
47	chr7:8300600-8302000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr7:8300600-8302000	Active TSS	Colonic Mucosa	Colon
49	chr7:8300600-8302200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr7:8300600-8302200	Active TSS	Left Ventricle	heart

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