Variant report

Variant	rs527622265
Chromosome Location	chr6:30434788-30434789
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	MAX	chr6:30433902-30434948	A549	lung:	n/a	n/a
2	MAX	chr6:30433962-30434788	A549	lung:	n/a	n/a
3	MAX	chr6:30433688-30434841	K562	blood:	n/a	chr6:30433883-30433894 chr6:30433880-30433895 chr6:30433885-30433894
4	RUNX3	chr6:30434303-30434818	GM12878	blood:	n/a	n/a
5	ZNF384	chr6:30434501-30434926	K562	blood:	n/a	n/a
6	ZNF384	chr6:30434595-30434937	GM12878	blood:	n/a	n/a
7	ELF1	chr6:30433919-30434800	GM12878	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
2	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:

Variant related genes	Relation type
SUCLA2P1	TF binding region
ENSG00000222894	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv884071	chr6:30433090-30444357	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv884072	chr6:30433611-30447987	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv884073	chr6:30434566-30445476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv884074	chr6:30434566-30447987	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv884075	chr6:30434566-30449046	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30433200-30434800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:30433800-30434800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr6:30433800-30434800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:30433800-30434800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:30433800-30434800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr6:30433800-30434800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
10	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr6:30433800-30434800	Bivalent Enhancer	Fetal Kidney	kidney
12	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
14	chr6:30433800-30435000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:30433800-30435000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr6:30434000-30434800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:30434000-30434800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:30434000-30434800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr6:30434000-30434800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:30434000-30434800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:30434000-30434800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:30434000-30434800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
26	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:30434000-30434800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:30434000-30434800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:30434000-30434800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
37	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
38	chr6:30434000-30434800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr6:30434000-30434800	Bivalent/Poised TSS	Hela-S3	cervix
40	chr6:30434000-30434800	Flanking Bivalent TSS/Enh	HMEC	breast
41	chr6:30434000-30434800	Bivalent/Poised TSS	HSMMtube	muscle
42	chr6:30434000-30434800	Bivalent/Poised TSS	NHLF	lung
43	chr6:30434000-30435000	Bivalent/Poised TSS	A549	lung
44	chr6:30434200-30434800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:30434200-30434800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:30434200-30434800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:30434200-30434800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
48	chr6:30434200-30434800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr6:30434200-30434800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
50	chr6:30434200-30434800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood

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