Variant report

Variant	rs3748081
Chromosome Location	chr6:33587911-33587912
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	POLR2A	chr6:33587814-33588686	MCF10A-Er-Src	breast:	n/a	n/a
2	ELF1	chr6:33587855-33588234	A549	lung:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
3	POLR2A	chr6:33587813-33588270	HCT-116	colon:	n/a	n/a
4	ELF1	chr6:33587879-33588455	GM12878	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
5	TFAP2A	chr6:33587780-33589508	Hela-S3	cervix:	n/a	chr6:33587936-33587950 chr6:33587938-33587948 chr6:33587936-33587950 chr6:33587938-33587948 chr6:33588821-33588836 chr6:33587938-33587948 chr6:33588733-33588744 chr6:33587938-33587948
6	POLR2A	chr6:33587666-33589182	U87	brain:	n/a	n/a
7	RUNX3	chr6:33587881-33588331	GM12878	blood:	n/a	n/a
8	TCF12	chr6:33587908-33588692	ECC-1	luminal epithelium:	n/a	n/a
9	ELF1	chr6:33587897-33588341	K562	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
10	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
11	MAX	chr6:33587836-33590117	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
12	SIN3A	chr6:33587857-33590046	H1-hESC	embryonic stem cell:	n/a	chr6:33587958-33587971 chr6:33589849-33589857 chr6:33588670-33588681 chr6:33587966-33587974
13	POLR2A	chr6:33587672-33589176	U87	brain:	n/a	n/a
14	POLR2A	chr6:33587843-33588364	PANC-1	pancreas:	n/a	n/a
15	ZBTB7A	chr6:33587900-33588351	K562	blood:	n/a	n/a
16	MAX	chr6:33587775-33590168	HCT-116	colon:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
17	ELF1	chr6:33587905-33588297	GM12878	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
18	ZBTB7A	chr6:33587872-33588689	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr6:33587836-33589724	GM18505	blood:	n/a	n/a
20	MAZ	chr6:33587852-33590071	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356
21	RCOR1	chr6:33587762-33588413	K562	blood:	n/a	n/a
22	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
23	TFAP2C	chr6:33587771-33589488	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:33587828-33590873	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:33587743-33589942	SK-N-MC	brain:	n/a	n/a
26	MAX	chr6:33587892-33590023	K562	blood:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
27	MXI1	chr6:33587781-33590201	Hela-S3	cervix:	n/a	chr6:33589775-33589784
28	ELF1	chr6:33587791-33588324	K562	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
29	MAX	chr6:33587844-33590011	A549	lung:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
30	ELF1	chr6:33587911-33588221	A549	lung:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
31	POLR2A	chr6:33587840-33589882	GM19099	blood:	n/a	n/a
32	TCF12	chr6:33587822-33588483	A549	lung:	n/a	n/a
33	POLR2A	chr6:33587785-33590069	HCT-116	colon:	n/a	n/a
34	POLR2A	chr6:33587728-33591124	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:33587842-33588366	U87	brain:	n/a	n/a
36	POLR2A	chr6:33587828-33588366	U87	brain:	n/a	n/a
37	POLR2A	chr6:33587772-33589427	HUVEC	blood vessel:	n/a	n/a
38	CHD2	chr6:33587841-33589491	Hela-S3	cervix:	n/a	n/a
39	TBP	chr6:33587343-33588752	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:33587765-33589879	HUVEC	blood vessel:	n/a	n/a
41	UBTF	chr6:33587844-33589892	K562	blood:	n/a	n/a
42	MTA3	chr6:33587620-33589109	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:33587702-33590307	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:33587659-33589262	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr6:33587903-33589962	ECC-1	luminal epithelium:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
46	ELF1	chr6:33587755-33588461	SK-N-SH	brain:	n/a	chr6:33588078-33588091 chr6:33588015-33588028

No.	Distal block	Cell Line	Cell type
1	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
2	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
3	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
4	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000137288	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
6	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578800-33588000	Weak transcription	Gastric	stomach
2	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:33586000-33588000	Enhancers	Spleen	Spleen
5	chr6:33586600-33588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:33586800-33588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33586800-33588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33586800-33588000	Enhancers	Stomach Mucosa	stomach
9	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr6:33587000-33588000	Enhancers	HSMMtube	muscle
11	chr6:33587000-33588200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:33587000-33588600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr6:33587200-33588000	Bivalent/Poised TSS	Fetal Brain Male	brain
14	chr6:33587200-33588000	Flanking Active TSS	Hela-S3	cervix
15	chr6:33587200-33588000	Flanking Active TSS	NHDF-Ad	bronchial
16	chr6:33587200-33588600	Flanking Active TSS	HUVEC	blood vessel
17	chr6:33587200-33589000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:33587400-33588000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:33587400-33588000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr6:33587400-33588000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:33587400-33588000	Flanking Active TSS	A549	lung
22	chr6:33587400-33588000	Flanking Active TSS	Dnd41	blood
23	chr6:33587600-33588000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:33587600-33588000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr6:33587600-33588000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr6:33587600-33588000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr6:33587600-33588000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:33587600-33588000	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr6:33587600-33588000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:33587600-33588000	Flanking Active TSS	Fetal Lung	lung
31	chr6:33587600-33588200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:33587600-33588200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
33	chr6:33587600-33588200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:33587600-33588200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:33587600-33588200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:33587600-33588200	Flanking Active TSS	HMEC	breast
37	chr6:33587600-33588200	Flanking Active TSS	HSMM	muscle
38	chr6:33587600-33588200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr6:33587600-33588600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr6:33587600-33588600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:33587600-33588600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr6:33587600-33589000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr6:33587600-33589000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr6:33587600-33590000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:33587600-33590000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:33587600-33590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:33587800-33588000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr6:33587800-33588000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:33587800-33588000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:33587800-33588000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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