Variant report

Variant	rs1321076
Chromosome Location	chr6:45391860-45391861
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	RAD21	chr6:45391522-45392061	H1-hESC	embryonic stem cell:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45391581-45391591
2	MYC	chr6:45391704-45391867	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr6:45391712-45391892	GM12878	blood:	n/a	chr6:45391794-45391808
4	CTCF	chr6:45391740-45391890	NHDF-neo	bronchial:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
5	CHD2	chr6:45391776-45391976	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr6:45391507-45392700	NB4	blood:	n/a	n/a
7	RAD21	chr6:45388419-45392074	IMR90	lung:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591 chr6:45388466-45388478
8	POLR2A	chr6:45389182-45392710	HL-60	blood:	n/a	n/a
9	CTCF	chr6:45391720-45391870	AG09319	gingival:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
10	CTCF	chr6:45391740-45391890	HPAF	blood vessel:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
11	POLR2A	chr6:45389166-45392571	HL-60	blood:	n/a	n/a
12	CTCF	chr6:45391760-45391910	NB4	blood:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
13	CHD1	chr6:45388363-45391883	IMR90	lung:	n/a	chr6:45391066-45391076 chr6:45391635-45391645
14	JUND	chr6:45391806-45392001	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:45389301-45392277	MCF-7	breast:	n/a	n/a
16	MAX	chr6:45391633-45392130	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr6:45390193-45392102	H1-hESC	embryonic stem cell:	n/a	chr6:45391794-45391808 chr6:45392039-45392052 chr6:45390904-45390916 chr6:45390740-45390753 chr6:45391581-45391591
18	CTCF	chr6:45391820-45391970	HCM	heart:	n/a	n/a
19	CTBP2	chr6:45390579-45392136	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr6:45391820-45391970	GM12871	blood:	n/a	n/a
21	E2F6	chr6:45391390-45392144	H1-hESC	embryonic stem cell:	n/a	chr6:45391570-45391579
22	MAX	chr6:45391635-45392059	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr6:45389223-45392118	IMR90	lung:	n/a	n/a
24	MAX	chr6:45391749-45392127	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:45389241-45392606	NB4	blood:	n/a	n/a
26	CTCF	chr6:45391720-45391870	HCPEpiC	choroid plexus:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
27	CTCF	chr6:45391760-45391910	AG04449	skin:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
28	CTCF	chr6:45391760-45391910	HA-sp	spinal cord:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
29	CTCF	chr6:45391740-45391890	HCFaa	heart:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
30	REST	chr6:45391742-45392628	HL-60	blood:	n/a	n/a
31	TCF12	chr6:45391784-45391980	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr6:45391719-45391930	SK-N-SH	brain:	n/a	n/a
33	MAZ	chr6:45389048-45392554	IMR90	lung:	n/a	chr6:45391434-45391444 chr6:45389137-45389147
34	CTCF	chr6:45391720-45391870	HBMEC	blood vessel:	n/a	chr6:45391791-45391804 chr6:45391794-45391807
35	E2F6	chr6:45391622-45392089	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:45391852-45391902	Hela-S3	cervix:	n/a
2	chr6:45391852-45391902	HRCEpiC	kidney:	n/a
3	chr6:45391852-45391902	SK-N-SH_RA	brain:	n/a
4	chr6:45391852-45391902	HIPEpiC	eye:	n/a
5	chr6:45391852-45391902	K562	blood:	n/a
6	chr6:45391852-45391902	GM12878	blood:	n/a
7	chr6:45391852-45391902	ProgFib	skin:	n/a
8	chr6:45391852-45391902	HL-60	blood:	n/a
9	chr6:45391852-45391902	NHBE	bronchial:	n/a
10	chr6:45391852-45391902	MCF-7	breast:	n/a
11	chr6:45391852-45391902	T-47D	breast:	n/a
12	chr6:45391852-45391902	AG04450	lung:	fetal
13	chr6:45391852-45391902	HCT-116	colon:	n/a
14	chr6:45391852-45391902	HUVEC	blood vessel:	n/a
15	chr6:45391852-45391902	ECC-1	luminal epithelium:	n/a
16	chr6:45391852-45391902	GM19239	blood:	n/a
17	chr6:45391852-45391902	SAEC	small airway:	n/a
18	chr6:45391852-45391902	BE2_C	brain:	n/a
19	chr6:45391852-45391902	PANC-1	pancreas:	n/a
20	chr6:45391852-45391902	NT2-D1	testis:	n/a
21	chr6:45391852-45391902	LNCaP	prostate:	n/a
22	chr6:45391852-45391902	AoSMC	blood vessel:	n/a
23	chr6:45391852-45391902	HCPEpiC	choroid plexus:	n/a
24	chr6:45391852-45391902	RPTEC	kidney:	n/a
25	chr6:45391852-45391902	HEEpiC	esophagus:	n/a
26	chr6:45391852-45391902	AG09319	gingival:	n/a
27	chr6:45391852-45391902	NH-A	brain:	n/a
28	chr6:45391852-45391902	NB4	blood:	n/a
29	chr6:45391852-45391902	H1-hESC	embryonic stem cell:	embryo
30	chr6:45391852-45391902	BJ	skin:	n/a
31	chr6:45391852-45391902	A549	lung:	n/a
32	chr6:45391852-45391902	CMK	blood:	n/a
33	chr6:45391852-45391902	GM06990	blood:	n/a
34	chr6:45391852-45391902	MCF10A-Er-Src	breast:	n/a
35	chr6:45391852-45391902	PrEC	prostate:	n/a
36	chr6:45391852-45391902	HPAEpiC	pulmonary alveolar:	n/a
37	chr6:45391852-45391902	AG09309	skin:	n/a
38	chr6:45391852-45391902	Jurkat	blood:	n/a
39	chr6:45391852-45391902	HCM	heart:	n/a
40	chr6:45391852-45391902	GM12892	blood:	n/a
41	chr6:45391852-45391902	HNPCEpiC	eye:	n/a
42	chr6:45391852-45391902	HCF	heart:	n/a
43	chr6:45391852-45391902	AG04449	skin:	fetal
44	chr6:45391852-45391902	ovcar-3	ovarian:	n/a
45	chr6:45391852-45391902	U87	brain:	n/a
46	chr6:45391852-45391902	HRE	kidney:	n/a
47	chr6:45391852-45391902	HMEC	breast:	n/a
48	chr6:45391852-45391902	SK-N-MC	brain:	n/a
49	chr6:45391852-45391902	Caco-2	colon:	n/a
50	chr6:45391852-45391902	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:45391180..45393282-chr6:45393319..45396759,3	K562	blood:
2	chr6:45391466..45393363-chr6:45413859..45416202,2	MCF-7	breast:
3	chr6:45369759..45372221-chr6:45390852..45393677,2	K562	blood:
4	chr6:44626505..44628712-chr6:45390567..45392142,2	MCF-7	breast:
5	chr6:45391736..45393950-chr6:45394810..45397600,3	K562	blood:
6	chr6:44700126..44702193-chr6:45390797..45392676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	TF binding region
ENSG00000271857	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1321075	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13437231	0.88[AFR][1000 genomes]
rs1467458	0.84[ASN][1000 genomes]
rs2064629	0.83[ASN][1000 genomes]
rs2677104	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2819860	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9472489	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3495915	chr6:45388574-45392472	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3495916	chr6:45388574-45392472	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45387000-45392200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:45388200-45392000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:45388200-45392000	Active TSS	NHDF-Ad	bronchial
4	chr6:45388200-45392400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:45388400-45393400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:45388600-45392000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr6:45388600-45392200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:45388600-45392800	Active TSS	HSMM	muscle
9	chr6:45388600-45393000	Active TSS	NHLF	lung
10	chr6:45388800-45392000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:45388800-45392400	Active TSS	HSMMtube	muscle
12	chr6:45389000-45392200	Active TSS	Osteobl	bone
13	chr6:45389000-45392400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:45389000-45392400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:45389000-45392600	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:45389200-45392000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:45389200-45392000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:45389200-45392000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:45389200-45392000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:45389200-45392000	Active TSS	Brain Substantia Nigra	brain
21	chr6:45389200-45392000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr6:45389200-45392000	Active TSS	NHEK	skin
23	chr6:45389200-45392200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr6:45389200-45392400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr6:45389200-45392400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:45389400-45392000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr6:45389400-45392200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:45389400-45392600	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr6:45389400-45392600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:45389400-45392600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr6:45389600-45392000	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr6:45389600-45392000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:45390000-45392000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:45390000-45392000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr6:45390600-45392000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:45390600-45392000	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr6:45390600-45392000	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
38	chr6:45390600-45392200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr6:45390600-45392200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:45390600-45392200	Active TSS	Right Atrium	heart
41	chr6:45390600-45392200	Flanking Active TSS	Dnd41	blood
42	chr6:45390600-45392400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
43	chr6:45390600-45392400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr6:45390600-45392600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr6:45390800-45392200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr6:45390800-45392200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr6:45390800-45392400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:45390800-45392600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:45390800-45393000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:45391000-45392000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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