Variant report

Variant	rs6859822
Chromosome Location	chr5:61708967-61708968
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	CREB1	chr5:61708212-61709281	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr5:61708279-61709200	K562	blood:	n/a	chr5:61708376-61708385 chr5:61708828-61708838
3	MAX	chr5:61708326-61709008	A549	lung:	n/a	chr5:61708376-61708385 chr5:61708828-61708838
4	HCFC1	chr5:61708297-61709515	K562	blood:	n/a	n/a
5	ZBTB7A	chr5:61708867-61709071	K562	blood:	n/a	n/a
6	IRF1	chr5:61708289-61709184	K562	blood:	n/a	chr5:61708710-61708719
7	POLR2A	chr5:61708148-61709181	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr5:61708341-61708992	PANC-1	pancreas:	n/a	n/a
9	YY1	chr5:61708317-61708976	SK-N-SH_RA	brain:	n/a	chr5:61708611-61708620 chr5:61708610-61708622 chr5:61708651-61708660
10	MAX	chr5:61708274-61709001	HCT-116	colon:	n/a	chr5:61708376-61708385 chr5:61708828-61708838
11	CREB1	chr5:61708057-61709319	K562	blood:	n/a	n/a
12	POLR2A	chr5:61708222-61709382	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr5:61708234-61709548	K562	blood:	n/a	n/a
14	POLR2A	chr5:61708249-61709361	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr5:61708440-61709152	MCF-7	breast:	n/a	chr5:61708828-61708838
16	TBL1XR1	chr5:61708183-61709187	K562	blood:	n/a	n/a
17	POLR2A	chr5:61708149-61709290	Hela-S3	cervix:	n/a	n/a
18	E2F4	chr5:61708282-61709185	K562	blood:	n/a	chr5:61708576-61708583 chr5:61708575-61708584 chr5:61708576-61708583 chr5:61708572-61708586 chr5:61708576-61708583 chr5:61708576-61708584 chr5:61708575-61708583 chr5:61708505-61708516 chr5:61708576-61708584 chr5:61708471-61708478
19	YY1	chr5:61708140-61709213	SK-N-SH	brain:	n/a	chr5:61708611-61708620 chr5:61708610-61708622 chr5:61708651-61708660
20	YY1	chr5:61708420-61708969	K562	blood:	n/a	chr5:61708611-61708620 chr5:61708610-61708622 chr5:61708651-61708660
21	POLR2A	chr5:61708143-61709062	GM19099	blood:	n/a	n/a
22	UBTF	chr5:61708478-61709187	K562	blood:	n/a	n/a
23	POLR2A	chr5:61708205-61709206	NB4	blood:	n/a	n/a
24	POLR2A	chr5:61708101-61709105	H1-neurons	neurons:	n/a	n/a
25	SIN3A	chr5:61708120-61709487	H1-hESC	embryonic stem cell:	n/a	chr5:61708935-61708948
26	MAX	chr5:61708209-61709325	A549	lung:	n/a	chr5:61708376-61708385 chr5:61708828-61708838
27	TAF1	chr5:61708208-61709216	H1-hESC	embryonic stem cell:	n/a	n/a
28	HA-E2F1	chr5:61708118-61709099	MCF-7	breast:	n/a	chr5:61708576-61708583 chr5:61708575-61708584 chr5:61708576-61708583 chr5:61708572-61708586 chr5:61708576-61708583 chr5:61708576-61708584 chr5:61708576-61708584 chr5:61708471-61708478
29	RCOR1	chr5:61708184-61709092	K562	blood:	n/a	n/a
30	POLR2A	chr5:61708204-61709180	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr5:61708143-61709275	HepG2	liver:	n/a	n/a
32	POLR2A	chr5:61708293-61709104	GM12878	blood:	n/a	n/a
33	MXI1	chr5:61708096-61709449	K562	blood:	n/a	chr5:61708374-61708389 chr5:61708376-61708391
34	POLR2A	chr5:61708041-61709251	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr5:61708284-61708981	H1-hESC	embryonic stem cell:	n/a	chr5:61708611-61708620 chr5:61708610-61708622 chr5:61708651-61708660
36	POLR2A	chr5:61708164-61709279	K562	blood:	n/a	n/a
37	POLR2A	chr5:61708193-61709212	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr5:61708430-61709260	K562	blood:	n/a	n/a
39	MAX	chr5:61708381-61709179	K562	blood:	n/a	chr5:61708828-61708838
40	CHD1	chr5:61708427-61709373	IMR90	lung:	n/a	chr5:61708471-61708478
41	POLR2A	chr5:61708174-61709174	GM18505	blood:	n/a	n/a
42	RELA	chr5:61708166-61708990	GM15510	blood:	n/a	n/a
43	MAX	chr5:61708214-61709212	NB4	blood:	n/a	chr5:61708376-61708385 chr5:61708828-61708838
44	POLR2A	chr5:61708262-61709100	MCF-7	breast:	n/a	n/a
45	TAL1	chr5:61708536-61709308	K562	blood:	n/a	n/a
46	GABPA	chr5:61708348-61709135	K562	blood:	n/a	chr5:61708544-61708558 chr5:61708546-61708555
47	ZMIZ1	chr5:61708444-61709209	K562	blood:	n/a	n/a
48	POLR2A	chr5:61708171-61709052	PFSK-1	brain:	n/a	n/a
49	ATF1	chr5:61708286-61709349	K562	blood:	n/a	chr5:61708563-61708577
50	POLR2A	chr5:61708354-61709205	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
2	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
3	chr5:61708374..61709879-chr5:61712891..61715060,2	MCF-7	breast:
4	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
5	chr5:61686362..61687960-chr5:61708194..61709938,2	MCF-7	breast:
6	chr11:57508922..57509774-chr5:61708521..61709172,2	Hela-S3	cervix:
7	chr5:61601533..61603969-chr5:61707379..61709702,2	K562	blood:

Variant related genes	Relation type
IPO11	TF binding region
ENSG00000086189	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000068796	Chromatin interaction
ENSG00000086200	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13156695	0.86[AFR][1000 genomes]
rs16890628	0.86[AFR][1000 genomes]
rs16890634	0.86[AFR][1000 genomes]
rs6888164	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription 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	29 gene(s)	inside rSNPs	diseases
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61707800-61709000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:61707800-61709000	Active TSS	Osteobl	bone
3	chr5:61707800-61709200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:61707800-61709200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:61707800-61709200	Active TSS	Brain Angular Gyrus	brain
6	chr5:61707800-61709200	Active TSS	Brain Anterior Caudate	brain
7	chr5:61707800-61709200	Active TSS	Brain Germinal Matrix	brain
8	chr5:61707800-61709200	Active TSS	Brain Hippocampus Middle	brain
9	chr5:61707800-61709200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:61707800-61709200	Active TSS	Brain Substantia Nigra	brain
11	chr5:61707800-61709200	Active TSS	Fetal Brain Female	brain
12	chr5:61707800-61709200	Active TSS	Rectal Smooth Muscle	rectum
13	chr5:61707800-61709200	Active TSS	NHLF	lung
14	chr5:61707800-61709400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:61707800-61709400	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:61707800-61709400	Active TSS	NH-A	brain
17	chr5:61707800-61709600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:61707800-61709600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:61707800-61709800	Active TSS	Psoas Muscle	Psoas
20	chr5:61707800-61709800	Active TSS	NHDF-Ad	bronchial
21	chr5:61707800-61710000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:61707800-61710000	Active TSS	A549	lung
23	chr5:61707800-61710200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr5:61708000-61709000	Active TSS	Placenta Amnion	Placenta Amnion
25	chr5:61708000-61709200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr5:61708000-61709200	Active TSS	Fetal Stomach	stomach
27	chr5:61708000-61709200	Active TSS	Ovary	ovary
28	chr5:61708000-61709200	Bivalent/Poised TSS	HepG2	liver
29	chr5:61708000-61709400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr5:61708000-61709400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:61708000-61709400	Active TSS	Aorta	Aorta
32	chr5:61708000-61709400	Active TSS	Fetal Kidney	kidney
33	chr5:61708000-61709400	Active TSS	Left Ventricle	heart
34	chr5:61708000-61709400	Active TSS	HMEC	breast
35	chr5:61708000-61709400	Active TSS	HSMM	muscle
36	chr5:61708000-61709400	Active TSS	HSMMtube	muscle
37	chr5:61708000-61709600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:61708000-61709600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:61708000-61709600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:61708000-61709600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:61708000-61709600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr5:61708000-61709600	Active TSS	Right Atrium	heart
43	chr5:61708000-61709800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:61708000-61709800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:61708000-61709800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:61708000-61709800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:61708000-61709800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr5:61708000-61709800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:61708000-61709800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:61708000-61709800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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