Variant report

Variant	rs189766435
Chromosome Location	chr6:33389072-33389073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:33388843-33389171	K562	blood:	n/a	n/a
2	NR2F2	chr6:33388853-33389173	K562	blood:	n/a	n/a
3	SIX5	chr6:33388885-33389138	K562	blood:	n/a	n/a
4	HCFC1	chr6:33388810-33389161	K562	blood:	n/a	n/a
5	TBL1XR1	chr6:33388841-33389257	K562	blood:	n/a	n/a
6	MAZ	chr6:33388811-33389150	K562	blood:	n/a	chr6:33388927-33388937
7	MYC	chr6:33388877-33389157	K562	blood:	n/a	chr6:33388927-33388937
8	JUND	chr6:33388805-33389154	K562	blood:	n/a	n/a
9	IRF1	chr6:33388902-33389116	K562	blood:	n/a	n/a
10	GABPA	chr6:33388880-33389232	MCF-7	breast:	n/a	n/a
11	MAX	chr6:33388773-33389202	K562	blood:	n/a	chr6:33388927-33388937
12	MAX	chr6:33388910-33389166	K562	blood:	n/a	chr6:33388927-33388937
13	GABPA	chr6:33388792-33389225	A549	lung:	n/a	n/a
14	YY1	chr6:33388887-33389085	K562	blood:	n/a	n/a
15	IRF1	chr6:33388848-33389105	K562	blood:	n/a	n/a
16	MAZ	chr6:33387360-33389235	IMR90	lung:	n/a	chr6:33388927-33388937
17	TAL1	chr6:33388814-33389195	K562	blood:	n/a	chr6:33389049-33389057
18	BCLAF1	chr6:33388732-33389176	K562	blood:	n/a	n/a
19	RCOR1	chr6:33388820-33389153	K562	blood:	n/a	n/a
20	UBTF	chr6:33388814-33389166	K562	blood:	n/a	n/a
21	GATA1	chr6:33388925-33389451	PBDE	blood:	n/a	chr6:33389050-33389057 chr6:33389043-33389064 chr6:33389050-33389057 chr6:33389046-33389062 chr6:33389050-33389057 chr6:33389075-33389086 chr6:33389049-33389059 chr6:33389046-33389057
22	CBX3	chr6:33388654-33389271	K562	blood:	n/a	n/a
23	EP300	chr6:33388841-33389179	K562	blood:	n/a	n/a
24	CBX3	chr6:33388814-33389216	K562	blood:	n/a	n/a
25	CEBPD	chr6:33388740-33389287	K562	blood:	n/a	n/a
26	UBTF	chr6:33388909-33389128	K562	blood:	n/a	n/a
27	GABPA	chr6:33388886-33389116	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr6:33388829-33389169	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr6:33388810-33389195	A549	lung:	n/a	n/a
30	BCLAF1	chr6:33388691-33389320	K562	blood:	n/a	n/a
31	GABPA	chr6:33388760-33389172	K562	blood:	n/a	n/a
32	SIN3A	chr6:33388837-33389186	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr6:33388853-33389173	K562	blood:	n/a	n/a
34	ZC3H11A	chr6:33388843-33389151	K562	blood:	n/a	n/a
35	POLR2A	chr6:33388806-33389169	H1-neurons	neurons:	n/a	n/a
36	MYC	chr6:33388860-33389164	K562	blood:	n/a	chr6:33388927-33388937
37	TEAD4	chr6:33388759-33389234	K562	blood:	n/a	n/a
38	TEAD4	chr6:33388820-33389167	K562	blood:	n/a	n/a
39	BCLAF1	chr6:33388894-33389180	GM12878	blood:	n/a	n/a
40	POLR2A	chr6:33388783-33389192	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33389072-33389122	BJ	skin:	n/a
2	chr6:33389072-33389122	CMK	blood:	n/a
3	chr6:33389072-33389122	HMEC	breast:	n/a
4	chr6:33389072-33389122	NH-A	brain:	n/a
5	chr6:33389072-33389122	PFSK-1	brain:	n/a
6	chr6:33389072-33389122	GM12878	blood:	n/a
7	chr6:33389072-33389122	RPTEC	kidney:	n/a
8	chr6:33389072-33389122	NHBE	bronchial:	n/a
9	chr6:33389072-33389122	LNCaP	prostate:	n/a
10	chr6:33389072-33389122	H1-hESC	embryonic stem cell:	embryo
11	chr6:33389072-33389122	MCF10A-Er-Src	breast:	n/a
12	chr6:33389072-33389122	PANC-1	pancreas:	n/a
13	chr6:33389072-33389122	HRCEpiC	kidney:	n/a
14	chr6:33389072-33389122	Hela-S3	cervix:	n/a
15	chr6:33389072-33389122	HAEpiC	amniotic membrane:	n/a
16	chr6:33389072-33389122	NB4	blood:	n/a
17	chr6:33389072-33389122	HUVEC	blood vessel:	n/a
18	chr6:33389072-33389122	HCT-116	colon:	n/a
19	chr6:33389072-33389122	GM06990	blood:	n/a
20	chr6:33389072-33389122	Hepatocyte	liver:	n/a
21	chr6:33389072-33389122	Jurkat	blood:	n/a
22	chr6:33389072-33389122	SK-N-SH_RA	brain:	n/a
23	chr6:33389072-33389122	HepG2	liver:	n/a
24	chr6:33389072-33389122	IMR90	lung:	fetal
25	chr6:33389072-33389122	NT2-D1	testis:	n/a
26	chr6:33389072-33389122	HRPEpiC	eye:	n/a
27	chr6:33389072-33389122	U87	brain:	n/a
28	chr6:33389072-33389122	HEK293	kidney:	embryo
29	chr6:33389072-33389122	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:33389072-33389122	ProgFib	skin:	n/a
31	chr6:33389072-33389122	ECC-1	luminal epithelium:	n/a
32	chr6:33389072-33389122	K562	blood:	n/a
33	chr6:33389072-33389122	HNPCEpiC	eye:	n/a
34	chr6:33389072-33389122	SKMC	muscle:	n/a
35	chr6:33389072-33389122	SK-N-SH	brain:	n/a
36	chr6:33389072-33389122	AG09319	gingival:	n/a
37	chr6:33389072-33389122	HCM	heart:	n/a
38	chr6:33389072-33389122	AG04449	skin:	fetal
39	chr6:33389072-33389122	HCF	heart:	n/a
40	chr6:33389072-33389122	Caco-2	colon:	n/a
41	chr6:33389072-33389122	HCPEpiC	choroid plexus:	n/a
42	chr6:33389072-33389122	PrEC	prostate:	n/a
43	chr6:33389072-33389122	HL-60	blood:	n/a
44	chr6:33389072-33389122	SAEC	small airway:	n/a
45	chr6:33389072-33389122	AG04450	lung:	fetal
46	chr6:33389072-33389122	AoSMC	blood vessel:	n/a
47	chr6:33389072-33389122	HEEpiC	esophagus:	n/a
48	chr6:33389072-33389122	GM12891	blood:	n/a
49	chr6:33389072-33389122	SK-N-MC	brain:	n/a
50	chr6:33389072-33389122	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
3	chr6:33242929..33245218-chr6:33388533..33390277,2	K562	blood:
4	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
5	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
6	chr6:33372672..33375320-chr6:33388854..33391700,2	MCF-7	breast:
7	chr6:33279097..33283546-chr6:33386045..33390564,5	MCF-7	breast:
8	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:

No data

Variant related genes	Relation type
CUTA	TF binding region
CUTA	CpG island
ENSG00000236104	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000235863	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	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
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	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
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
6	esv3491403	chr6:33386574-33390272	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3491404	chr6:33386574-33390272	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	esv3325690	chr6:33386999-33389547	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3404776	chr6:33387074-33389997	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33386000-33392600	Weak transcription	Gastric	stomach
2	chr6:33386200-33389400	Flanking Active TSS	Dnd41	blood
3	chr6:33386600-33389200	Enhancers	Fetal Heart	heart
4	chr6:33386800-33389800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr6:33386800-33392600	Weak transcription	Left Ventricle	heart
6	chr6:33387000-33392200	Weak transcription	Hela-S3	cervix
7	chr6:33387400-33389200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:33387400-33389600	Active TSS	Brain Angular Gyrus	brain
9	chr6:33387400-33392200	Weak transcription	Placenta	Placenta
10	chr6:33387400-33392200	Weak transcription	Spleen	Spleen
11	chr6:33387600-33389200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:33387600-33389200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:33387600-33389400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:33387600-33392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:33387800-33389200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:33387800-33389200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:33387800-33389200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:33387800-33389200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:33387800-33389200	Active TSS	Brain Anterior Caudate	brain
20	chr6:33387800-33389200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:33387800-33389200	Active TSS	Osteobl	bone
22	chr6:33387800-33389400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:33387800-33389400	Active TSS	Brain Hippocampus Middle	brain
24	chr6:33387800-33389600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:33387800-33391800	Weak transcription	Lung	lung
26	chr6:33387800-33392000	Weak transcription	Small Intestine	intestine
27	chr6:33387800-33392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:33387800-33392200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:33387800-33392200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:33387800-33392200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:33387800-33392400	Weak transcription	Primary B cells from cord blood	blood
32	chr6:33387800-33392400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:33387800-33392400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:33387800-33392600	Weak transcription	A549	lung
35	chr6:33388000-33389200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr6:33388000-33389400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:33388000-33392400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:33388000-33392400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:33388000-33392400	Weak transcription	Adipose Nuclei	Adipose
40	chr6:33388000-33392400	Weak transcription	Brain Substantia Nigra	brain
41	chr6:33388000-33392400	Weak transcription	HMEC	breast
42	chr6:33388000-33392600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:33388000-33392600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:33388000-33392600	Weak transcription	HSMM	muscle
45	chr6:33388200-33392200	Weak transcription	Psoas Muscle	Psoas
46	chr6:33388400-33389200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:33388400-33389400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:33388400-33392000	Weak transcription	Colonic Mucosa	Colon
49	chr6:33388400-33392200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:33388400-33392200	Weak transcription	Aorta	Aorta

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