Variant report

Variant	rs114017174
Chromosome Location	chr6:30431083-30431084
allele	A/G
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	RUNX3	chr6:30431074-30431810	GM12878	blood:	n/a	chr6:30431511-30431520 chr6:30431511-30431526 chr6:30431511-30431520
2	RUNX3	chr6:30431045-30431736	GM12878	blood:	n/a	chr6:30431511-30431520 chr6:30431511-30431526 chr6:30431511-30431520

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:

Variant related genes	Relation type
TMPOP1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3336846	chr6:30420111-30432946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
7	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30431200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
2	chr6:30429800-30431400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:30430200-30431200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr6:30430400-30431200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:30430400-30431200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:30430400-30431200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr6:30430600-30431200	Bivalent Enhancer	Primary T cells from cord blood	blood
9	chr6:30430600-30431400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr6:30430600-30431600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr6:30430800-30431200	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr6:30430800-30431200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:30430800-30431400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:30430800-30431400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:30430800-30431600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr6:30430800-30432400	Bivalent Enhancer	Fetal Thymus	thymus
17	chr6:30431000-30431200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
18	chr6:30431000-30431200	Bivalent Enhancer	Lung	lung
19	chr6:30431000-30431200	Bivalent Enhancer	Small Intestine	intestine
20	chr6:30431000-30431400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:30431000-30431400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr6:30431000-30431400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
23	chr6:30431000-30431400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:30431000-30431400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:30431000-30431400	Bivalent Enhancer	Colonic Mucosa	Colon
26	chr6:30431000-30431400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr6:30431000-30431400	Enhancers	Spleen	Spleen
28	chr6:30431000-30431400	Bivalent Enhancer	HMEC	breast
29	chr6:30431000-30431600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:30431000-30431600	Bivalent Enhancer	Right Ventricle	heart
31	chr6:30431000-30432000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
32	chr6:30431000-30432000	Bivalent Enhancer	Dnd41	blood
33	chr6:30431000-30432000	Bivalent Enhancer	GM12878-XiMat	blood
34	chr6:30431000-30432000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr6:30431000-30432200	Enhancers	Gastric	stomach
36	chr6:30431000-30432400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr6:30431000-30432400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr6:30431000-30432400	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr6:30431000-30432400	Enhancers	Pancreas	Pancrea
40	chr6:30431000-30432400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:30431000-30432600	Bivalent Enhancer	Adipose Nuclei	Adipose

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