Variant report

Variant	rs41271245
Chromosome Location	chr6:33421833-33421834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:142)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:142 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33421820-33422749	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:33421781-33422789	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr6:33421832-33422662	HepG2	liver:	n/a	n/a
4	SIN3A	chr6:33421804-33423120	H1-hESC	embryonic stem cell:	n/a	chr6:33422094-33422105
5	POLR2A	chr6:33421792-33422701	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:33421544-33422636	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr6:33421756-33422707	A549	lung:	n/a	n/a
8	POLR2A	chr6:33421833-33422600	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr6:33421625-33422707	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr6:33421648-33422831	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr6:33421758-33422715	SK-N-SH	brain:	n/a	n/a
12	ZNF263	chr6:33421664-33422668	HEK293-T-REx	kidney:	n/a	n/a
13	POLR2A	chr6:33421771-33422637	K562	blood:	n/a	n/a
14	MAX	chr6:33421738-33422876	HepG2	liver:	n/a	n/a
15	ELF1	chr6:33421798-33422610	GM12878	blood:	n/a	chr6:33422309-33422321
16	GABPA	chr6:33421759-33422755	SK-N-SH	brain:	n/a	chr6:33422309-33422318
17	GATA1	chr6:33421344-33422659	PBDE	blood:	n/a	chr6:33421824-33421835 chr6:33421720-33421732 chr6:33422578-33422599 chr6:33421829-33421839 chr6:33422585-33422592 chr6:33421726-33421733 chr6:33422585-33422592 chr6:33422585-33422592 chr6:33422584-33422594
18	RCOR1	chr6:33421820-33422657	K562	blood:	n/a	n/a
19	GABPA	chr6:33421823-33422770	MCF-7	breast:	n/a	chr6:33422309-33422318
20	IRF1	chr6:33421450-33422738	K562	blood:	n/a	chr6:33422253-33422262 chr6:33422290-33422299 chr6:33422228-33422242
21	SP1	chr6:33421727-33422777	HCT-116	colon:	n/a	chr6:33422252-33422273 chr6:33422279-33422300
22	SIN3AK20	chr6:33421786-33422651	SK-N-SH	brain:	n/a	n/a
23	STAT5A	chr6:33421700-33422592	GM12878	blood:	n/a	n/a
24	PML	chr6:33421566-33422697	K562	blood:	n/a	n/a
25	REST	chr6:33421736-33422806	H1-neurons	neurons:	n/a	chr6:33422177-33422187
26	MAX	chr6:33421773-33422779	MCF-7	breast:	n/a	n/a
27	MYC	chr6:33421812-33422747	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr6:33421738-33422666	K562	blood:	n/a	n/a
29	POLR2A	chr6:33421794-33422782	H1-neurons	neurons:	n/a	n/a
30	FOXM1	chr6:33421799-33422571	GM12878	blood:	n/a	n/a
31	GABPA	chr6:33421816-33422843	A549	lung:	n/a	chr6:33422309-33422318
32	REST	chr6:33421810-33422522	SK-N-SH	brain:	n/a	chr6:33422177-33422187
33	POLR2A	chr6:33421544-33422637	HCT-116	colon:	n/a	n/a
34	POLR2A	chr6:33420299-33422662	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr6:33421765-33422692	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr6:33421273-33424542	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr6:33421507-33422811	K562	blood:	n/a	n/a
38	POLR2A	chr6:33421788-33422697	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr6:33421700-33422752	U87	brain:	n/a	n/a
40	MAX	chr6:33421778-33422740	A549	lung:	n/a	n/a
41	POLR2A	chr6:33421495-33422680	IMR90	lung:	n/a	n/a
42	POLR2A	chr6:33421687-33422646	PBDE	blood:	n/a	n/a
43	MXI1	chr6:33421139-33423543	SK-N-SH	brain:	n/a	n/a
44	SIN3AK20	chr6:33421832-33422738	PANC-1	pancreas:	n/a	n/a
45	MYC	chr6:33421753-33422819	K562	blood:	n/a	n/a
46	SIN3AK20	chr6:33421771-33422841	K562	blood:	n/a	n/a
47	POLR2A	chr6:33421805-33422588	U87	brain:	n/a	n/a
48	POLR2A	chr6:33421809-33422744	MCF-7	breast:	n/a	n/a
49	POLR2A	chr6:33420325-33422797	SK-N-MC	brain:	n/a	n/a
50	ARID3A	chr6:33421823-33422480	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33421819-33421869	SK-N-SH_RA	brain:	n/a
2	chr6:33421819-33421869	NB4	blood:	n/a
3	chr6:33421819-33421869	Hepatocyte	liver:	n/a
4	chr6:33421819-33421869	NHDF-neo	bronchial:	n/a
5	chr6:33421819-33421869	NT2-D1	testis:	n/a
6	chr6:33421819-33421869	BJ	skin:	n/a
7	chr6:33421819-33421869	ECC-1	luminal epithelium:	n/a
8	chr6:33421819-33421869	AG04450	lung:	fetal
9	chr6:33421819-33421869	ProgFib	skin:	n/a
10	chr6:33421819-33421869	Hela-S3	cervix:	n/a
11	chr6:33421819-33421869	T-47D	breast:	n/a
12	chr6:33421819-33421869	SKMC	muscle:	n/a
13	chr6:33421819-33421869	HRE	kidney:	n/a
14	chr6:33421819-33421869	AoSMC	blood vessel:	n/a
15	chr6:33421819-33421869	NHBE	bronchial:	n/a
16	chr6:33421819-33421869	MCF-7	breast:	n/a
17	chr6:33421819-33421869	GM12878	blood:	n/a
18	chr6:33421819-33421869	GM12892	blood:	n/a
19	chr6:33421819-33421869	HCM	heart:	n/a
20	chr6:33421819-33421869	PFSK-1	brain:	n/a
21	chr6:33421819-33421869	RPTEC	kidney:	n/a
22	chr6:33421819-33421869	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:33421819-33421869	SK-N-MC	brain:	n/a
24	chr6:33421819-33421869	PANC-1	pancreas:	n/a
25	chr6:33421819-33421869	NH-A	brain:	n/a
26	chr6:33421819-33421869	HCPEpiC	choroid plexus:	n/a
27	chr6:33421819-33421869	SK-N-SH	brain:	n/a
28	chr6:33421819-33421869	HNPCEpiC	eye:	n/a
29	chr6:33421819-33421869	HL-60	blood:	n/a
30	chr6:33421819-33421869	Jurkat	blood:	n/a
31	chr6:33421819-33421869	H1-hESC	embryonic stem cell:	embryo
32	chr6:33421819-33421869	AG04449	skin:	fetal
33	chr6:33421819-33421869	A549	lung:	n/a
34	chr6:33421819-33421869	HRPEpiC	eye:	n/a
35	chr6:33421819-33421869	CMK	blood:	n/a
36	chr6:33421819-33421869	HEEpiC	esophagus:	n/a
37	chr6:33421819-33421869	ovcar-3	ovarian:	n/a
38	chr6:33421819-33421869	AG09319	gingival:	n/a
39	chr6:33421819-33421869	HCF	heart:	n/a
40	chr6:33421819-33421869	SAEC	small airway:	n/a
41	chr6:33421819-33421869	K562	blood:	n/a
42	chr6:33421819-33421869	AG09309	skin:	n/a
43	chr6:33421819-33421869	PrEC	prostate:	n/a
44	chr6:33421819-33421869	HRCEpiC	kidney:	n/a
45	chr6:33421819-33421869	GM06990	blood:	n/a
46	chr6:33421819-33421869	MCF10A-Er-Src	breast:	n/a
47	chr6:33421819-33421869	HEK293	kidney:	embryo
48	chr6:33421819-33421869	IMR90	lung:	fetal
49	chr6:33421819-33421869	HAEpiC	amniotic membrane:	n/a
50	chr6:33421819-33421869	LNCaP	prostate:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33381847..33384907-chr6:33420236..33423106,3	MCF-7	breast:
2	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
3	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
4	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
5	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
6	chr6:33245204..33246812-chr6:33420469..33423462,2	MCF-7	breast:
7	chr6:33406190..33414491-chr6:33419287..33424467,10	MCF-7	breast:
8	chr6:33398677..33403495-chr6:33419995..33423723,6	K562	blood:

No data

Variant related genes	Relation type
ZBTB9	TF binding region
ZBTB9	CpG island
ENSG00000112514	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000197283	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1106606	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11759285	0.83[EUR][1000 genomes]
rs2235982	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41267647	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4231	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55699469	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7752202	0.89[EUR][1000 genomes]
rs9277997	0.86[EUR][1000 genomes]
rs9278001	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9278005	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9278006	0.90[EUR][1000 genomes]
rs9278007	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9278015	0.90[EUR][1000 genomes]
rs9278016	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9278019	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9278027	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9278028	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9278034	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9278036	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278038	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278039	0.83[EUR][1000 genomes]
rs9278040	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278043	0.96[EUR][1000 genomes]
rs9278044	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278045	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278046	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9278049	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3341480	chr6:33418074-33422572	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3507170	chr6:33418124-33423322	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3507171	chr6:33418124-33423322	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 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	chr6:33420800-33422800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:33421000-33422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:33421000-33422000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:33421000-33422800	Active TSS	Primary T cells from cord blood	blood
5	chr6:33421000-33422800	Active TSS	Hela-S3	cervix
6	chr6:33421000-33422800	Active TSS	NH-A	brain
7	chr6:33421200-33422000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr6:33421200-33422000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr6:33421200-33422400	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:33421200-33422400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:33421200-33422800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:33421200-33422800	Active TSS	Right Ventricle	heart
13	chr6:33421200-33422800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr6:33421200-33422800	Active TSS	HMEC	breast
15	chr6:33421200-33422800	Active TSS	HSMM	muscle
16	chr6:33421200-33422800	Active TSS	NHEK	skin
17	chr6:33421200-33423000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:33421200-33423000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:33421200-33423000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:33421200-33423200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:33421400-33422000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:33421400-33422000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:33421400-33422000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:33421400-33422000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr6:33421400-33422000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr6:33421400-33422000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:33421400-33422000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:33421400-33422000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr6:33421400-33422000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:33421400-33422000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr6:33421400-33422000	Flanking Active TSS	Liver	Liver
32	chr6:33421400-33422000	Flanking Active TSS	Fetal Brain Male	brain
33	chr6:33421400-33422000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:33421400-33422000	Active TSS	Right Atrium	heart
35	chr6:33421400-33422000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:33421400-33422400	Active TSS	Pancreas	Pancrea
37	chr6:33421400-33422600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr6:33421400-33422600	Active TSS	Colonic Mucosa	Colon
39	chr6:33421400-33422600	Active TSS	Fetal Muscle Trunk	muscle
40	chr6:33421400-33422600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr6:33421400-33422600	Active TSS	GM12878-XiMat	blood
42	chr6:33421400-33422800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:33421400-33422800	Active TSS	Fetal Brain Female	brain
44	chr6:33421400-33422800	Active TSS	Gastric	stomach
45	chr6:33421400-33422800	Active TSS	Left Ventricle	heart
46	chr6:33421400-33422800	Active TSS	Lung	lung
47	chr6:33421400-33422800	Active TSS	Ovary	ovary
48	chr6:33421400-33422800	Active TSS	NHLF	lung
49	chr6:33421400-33423000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:33421400-33423000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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