Variant report

Variant	rs188693894
Chromosome Location	chr6:33379270-33379271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:122)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr6:33377416-33379769	GM12878	blood:	n/a	chr6:33378216-33378229 chr6:33378393-33378411 chr6:33379217-33379227 chr6:33379217-33379226 chr6:33379195-33379214 chr6:33377801-33377813
2	POLR2A	chr6:33377702-33379363	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:33377525-33379636	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:33376663-33380029	HepG2	liver:	n/a	n/a
5	REST	chr6:33377527-33379367	H1-neurons	neurons:	n/a	chr6:33378320-33378333
6	MAX	chr6:33378756-33379348	K562	blood:	n/a	n/a
7	POLR2A	chr6:33377681-33379306	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:33378417-33379440	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:33377691-33379342	A549	lung:	n/a	n/a
10	TAF1	chr6:33378749-33379334	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr6:33377114-33379361	K562	blood:	n/a	n/a
12	CTCF	chr6:33378754-33379332	K562	blood:	n/a	chr6:33379001-33379014
13	POLR2A	chr6:33377325-33379654	IMR90	lung:	n/a	n/a
14	SIN3AK20	chr6:33377671-33379315	K562	blood:	n/a	n/a
15	JUND	chr6:33378457-33379367	GM12878	blood:	n/a	chr6:33379019-33379028
16	POLR2A	chr6:33377455-33379323	Hela-S3	cervix:	n/a	n/a
17	SIN3A	chr6:33377698-33379401	H1-hESC	embryonic stem cell:	n/a	chr6:33377756-33377767
18	EGR1	chr6:33378750-33379312	K562	blood:	n/a	n/a
19	POLR2A	chr6:33378726-33379301	GM12878	blood:	n/a	n/a
20	JUND	chr6:33377391-33379285	K562	blood:	n/a	chr6:33378430-33378439 chr6:33377742-33377751 chr6:33379019-33379028
21	ETS1	chr6:33378778-33379330	K562	blood:	n/a	chr6:33379192-33379203
22	MAZ	chr6:33377268-33379379	K562	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
23	POLR2A	chr6:33377631-33379352	MCF10A-Er-Src	breast:	n/a	n/a
24	ZBTB7A	chr6:33378758-33379309	K562	blood:	n/a	n/a
25	POLR2A	chr6:33377189-33379499	Hela-S3	cervix:	n/a	n/a
26	HCFC1	chr6:33377063-33379614	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:33377647-33379288	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr6:33378736-33379357	PANC-1	pancreas:	n/a	n/a
29	CTCF	chr6:33379260-33379410	HRPEpiC	eye:	n/a	n/a
30	BHLHE40	chr6:33379179-33379309	K562	blood:	n/a	n/a
31	POLR2A	chr6:33377155-33379598	K562	blood:	n/a	n/a
32	MXI1	chr6:33377191-33379613	SK-N-SH	brain:	n/a	n/a
33	MXI1	chr6:33379123-33379340	K562	blood:	n/a	n/a
34	ZBTB7A	chr6:33378566-33379372	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr6:33379140-33379290	GM12874	blood:	n/a	n/a
36	MAZ	chr6:33377480-33379775	IMR90	lung:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
37	MXI1	chr6:33377505-33379770	IMR90	lung:	n/a	n/a
38	MAZ	chr6:33377725-33379439	GM12878	blood:	n/a	chr6:33378349-33378359 chr6:33378405-33378415
39	CTCF	chr6:33379180-33379330	Caco-2	colon:	n/a	n/a
40	SIN3AK20	chr6:33378775-33379440	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr6:33379220-33379424	K562	blood:	n/a	n/a
42	POLR2A	chr6:33379168-33379299	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33379265-33379315	HCF	heart:	n/a
2	chr6:33379265-33379315	HCM	heart:	n/a
3	chr6:33379265-33379315	BE2_C	brain:	n/a
4	chr6:33379267-33379317	HIPEpiC	eye:	n/a
5	chr6:33379265-33379315	HEEpiC	esophagus:	n/a
6	chr6:33379267-33379317	NT2-D1	testis:	n/a
7	chr6:33379265-33379315	HRPEpiC	eye:	n/a
8	chr6:33379267-33379317	HepG2	liver:	n/a
9	chr6:33379267-33379317	HMEC	breast:	n/a
10	chr6:33379267-33379317	NH-A	brain:	n/a
11	chr6:33379265-33379315	GM12878	blood:	n/a
12	chr6:33379265-33379315	Hepatocyte	liver:	n/a
13	chr6:33379265-33379315	PANC-1	pancreas:	n/a
14	chr6:33379267-33379317	HRCEpiC	kidney:	n/a
15	chr6:33379265-33379315	PFSK-1	brain:	n/a
16	chr6:33379267-33379317	RPTEC	kidney:	n/a
17	chr6:33379265-33379315	ProgFib	skin:	n/a
18	chr6:33379265-33379315	Hela-S3	cervix:	n/a
19	chr6:33379265-33379315	AG04449	skin:	fetal
20	chr6:33379265-33379315	HCT-116	colon:	n/a
21	chr6:33379265-33379315	H1-hESC	embryonic stem cell:	embryo
22	chr6:33379265-33379315	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:33379265-33379315	HIPEpiC	eye:	n/a
24	chr6:33379267-33379317	HL-60	blood:	n/a
25	chr6:33379267-33379317	CMK	blood:	n/a
26	chr6:33379267-33379317	Hepatocyte	liver:	n/a
27	chr6:33379265-33379315	AG09319	gingival:	n/a
28	chr6:33379265-33379315	SAEC	small airway:	n/a
29	chr6:33379267-33379317	HEEpiC	esophagus:	n/a
30	chr6:33379267-33379317	IMR90	lung:	fetal
31	chr6:33379265-33379315	T-47D	breast:	n/a
32	chr6:33379267-33379317	GM19239	blood:	n/a
33	chr6:33379265-33379315	CMK	blood:	n/a
34	chr6:33379265-33379315	HUVEC	blood vessel:	n/a
35	chr6:33379267-33379317	K562	blood:	n/a
36	chr6:33379267-33379317	PFSK-1	brain:	n/a
37	chr6:33379265-33379315	HRCEpiC	kidney:	n/a
38	chr6:33379265-33379315	GM12892	blood:	n/a
39	chr6:33379267-33379317	MCF10A-Er-Src	breast:	n/a
40	chr6:33379265-33379315	GM06990	blood:	n/a
41	chr6:33379265-33379315	Jurkat	blood:	n/a
42	chr6:33379265-33379315	HL-60	blood:	n/a
43	chr6:33379265-33379315	Caco-2	colon:	n/a
44	chr6:33379267-33379317	ovcar-3	ovarian:	n/a
45	chr6:33379267-33379317	HUVEC	blood vessel:	n/a
46	chr6:33379267-33379317	AG04449	skin:	fetal
47	chr6:33379267-33379317	U87	brain:	n/a
48	chr6:33379267-33379317	GM12891	blood:	n/a
49	chr6:33379265-33379315	ECC-1	luminal epithelium:	n/a
50	chr6:33379267-33379317	MCF-7	breast:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:32938764..32940269-chr6:33377609..33379519,2	MCF-7	breast:
3	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
4	chr6:33261265..33262842-chr6:33377823..33379768,2	K562	blood:
5	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
6	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
7	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
8	chr6:30710804..30712449-chr6:33376908..33379450,2	MCF-7	breast:
9	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
10	chr6:33358222..33360525-chr6:33377821..33380717,3	MCF-7	breast:
11	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
12	chr6:33255152..33256710-chr6:33377924..33379590,2	K562	blood:
13	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
14	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:
15	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
16	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
17	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
18	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:

No data

Variant related genes	Relation type
PHF1	TF binding region
PHF1	CpG island
ENSG00000227057	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3439586	chr6:33376999-33380347	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
4	esv3335292	chr6:33377349-33379972	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	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
6	esv3354637	chr6:33377724-33379522	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 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	chr6:33376600-33380000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:33377000-33379600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:33377200-33379400	Active TSS	Rectal Smooth Muscle	rectum
4	chr6:33377200-33379600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:33377200-33379600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:33377200-33379800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:33377200-33379800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:33377200-33380000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:33377400-33379400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:33377400-33379400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:33377400-33379400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:33377400-33379400	Active TSS	Fetal Brain Female	brain
13	chr6:33377400-33379400	Active TSS	A549	lung
14	chr6:33377400-33379600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:33377400-33379600	Active TSS	Brain Substantia Nigra	brain
16	chr6:33377400-33379800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:33377400-33379800	Active TSS	Right Ventricle	heart
18	chr6:33377600-33379400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:33377600-33379400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:33377600-33379400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:33377600-33379400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:33377600-33379400	Active TSS	Duodenum Mucosa	Duodenum
23	chr6:33377600-33379400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:33377600-33379400	Active TSS	Lung	lung
25	chr6:33377600-33379600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:33377600-33379600	Active TSS	Esophagus	oesophagus
27	chr6:33377600-33379600	Active TSS	Fetal Kidney	kidney
28	chr6:33377600-33379600	Active TSS	Left Ventricle	heart
29	chr6:33377600-33379600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr6:33377600-33379600	Active TSS	HSMMtube	muscle
31	chr6:33377600-33379800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:33377600-33379800	Active TSS	Ovary	ovary
33	chr6:33377600-33379800	Active TSS	Psoas Muscle	Psoas
34	chr6:33377600-33380000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:33377600-33380000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:33377600-33380000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:33377600-33380000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:33377800-33379400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:33377800-33379400	Active TSS	Fetal Stomach	stomach
40	chr6:33377800-33379400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr6:33377800-33379400	Active TSS	Small Intestine	intestine
42	chr6:33377800-33379400	Active TSS	Spleen	Spleen
43	chr6:33377800-33379600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:33377800-33379600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:33377800-33379600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:33377800-33379600	Active TSS	Aorta	Aorta
47	chr6:33377800-33379600	Active TSS	Brain Hippocampus Middle	brain
48	chr6:33377800-33379600	Active TSS	Gastric	stomach
49	chr6:33377800-33379800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:33377800-33380000	Active TSS	Colon Smooth Muscle	Colon

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