Variant report

Variant	rs545399325
Chromosome Location	chr6:76329371-76329372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:76329282-76329446	K562	blood:	n/a	n/a
2	SPI1	chr6:76329230-76329637	HL-60	blood:	n/a	n/a
3	SPI1	chr6:76329261-76329535	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:76327323..76329622-chr6:76330394..76331981,2	K562	blood:
2	chr6:76311042..76312955-chr6:76326997..76330794,3	MCF-7	breast:
3	chr6:76311276..76313926-chr6:76328791..76332406,4	MCF-7	breast:
4	chr6:76325725..76327529-chr6:76327837..76330229,2	K562	blood:
5	chr6:76327800..76329805-chr6:76331383..76333611,2	K562	blood:
6	chr6:76320866..76324674-chr6:76327767..76329913,3	MCF-7	breast:
7	chr6:76320486..76323287-chr6:76327522..76329955,3	K562	blood:

No data

Variant related genes	Relation type
SENP6	TF binding region
ENSG00000112701	Chromatin interaction
ENSG00000217488	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv886183	chr6:76320846-76399539	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv886184	chr6:76320846-76462711	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv886185	chr6:76320846-76498109	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv886186	chr6:76328955-76469115	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76313800-76331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:76314000-76343200	Weak transcription	Fetal Kidney	kidney
3	chr6:76314400-76334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:76314400-76336800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:76318200-76334800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:76319800-76333400	Weak transcription	HMEC	breast
7	chr6:76319800-76348400	Weak transcription	NHEK	skin
8	chr6:76320200-76333200	Weak transcription	NH-A	brain
9	chr6:76320200-76351800	Weak transcription	HSMMtube	muscle
10	chr6:76320200-76391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:76320600-76330000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:76320800-76334400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:76321200-76348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:76321600-76331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:76321600-76332800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:76321600-76334000	Weak transcription	HSMM	muscle
17	chr6:76321600-76339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:76321800-76370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:76322000-76341600	Weak transcription	NHLF	lung
20	chr6:76322400-76329400	Weak transcription	Right Ventricle	heart
21	chr6:76322600-76329400	Weak transcription	Aorta	Aorta
22	chr6:76322600-76361000	Weak transcription	Thymus	Thymus
23	chr6:76322800-76329400	Weak transcription	Lung	lung
24	chr6:76322800-76333800	Weak transcription	Placenta	Placenta
25	chr6:76323200-76329400	Weak transcription	Spleen	Spleen
26	chr6:76323200-76329600	Weak transcription	Colonic Mucosa	Colon
27	chr6:76323200-76329600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:76323200-76329800	Weak transcription	HUVEC	blood vessel
29	chr6:76323400-76330200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:76323600-76330200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:76323800-76329400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:76323800-76334000	Weak transcription	Hela-S3	cervix
33	chr6:76323800-76334200	Weak transcription	HepG2	liver
34	chr6:76324000-76331600	Weak transcription	Primary B cells from cord blood	blood
35	chr6:76324400-76329600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:76324600-76330200	Weak transcription	NHDF-Ad	bronchial
37	chr6:76324800-76329400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:76325000-76329400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:76325000-76329400	Weak transcription	Small Intestine	intestine
40	chr6:76325000-76329600	Weak transcription	Fetal Stomach	stomach
41	chr6:76325000-76330000	Weak transcription	Gastric	stomach
42	chr6:76325000-76334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:76325200-76329400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:76325200-76329400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:76325200-76329400	Weak transcription	Right Atrium	heart
46	chr6:76325200-76329600	Weak transcription	Esophagus	oesophagus
47	chr6:76325200-76330000	Weak transcription	Stomach Mucosa	stomach
48	chr6:76325200-76330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:76325200-76332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:76326400-76331000	Enhancers	Primary T helper cells fromperipheralblood	blood

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