Variant report

Variant	rs550416623
Chromosome Location	chr6:30483300-30483301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30482836-30483496	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30482665..30485731-chr6:30524141..30525971,3	MCF-7	breast:
2	chr6:30482834..30484451-chr6:30614992..30617203,2	MCF-7	breast:
3	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
4	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
5	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
6	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
7	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
8	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
9	chr6:30481743..30485761-chr6:30582102..30585444,5	K562	blood:
10	chr6:30482489..30485588-chr6:30582296..30586114,5	K562	blood:
11	chr6:30456467..30458810-chr6:30482542..30485985,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235781	TF binding region
ENSG00000204564	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000222894	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
8	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
9	nsv823471	chr6:30483102-30483978	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30468800-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:30476600-30485200	Weak transcription	Small Intestine	intestine
3	chr6:30477000-30483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:30477400-30483400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:30477400-30483600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:30477400-30483600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:30477400-30483600	Weak transcription	NHEK	skin
8	chr6:30477400-30483800	Weak transcription	HMEC	breast
9	chr6:30477600-30483600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:30478200-30483400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:30478600-30483600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:30479200-30483600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:30479600-30483600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:30481600-30483600	Enhancers	K562	blood
15	chr6:30481800-30483600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:30482000-30483600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:30482000-30483600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:30482400-30483600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:30482400-30485000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr6:30482600-30483600	Enhancers	Fetal Thymus	thymus
21	chr6:30482600-30483800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:30482600-30483800	Weak transcription	HSMM	muscle
23	chr6:30482800-30483400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:30482800-30483400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:30482800-30483400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:30482800-30483400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:30482800-30483400	Enhancers	Thymus	Thymus
28	chr6:30482800-30483400	Enhancers	Spleen	Spleen
29	chr6:30482800-30483400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr6:30482800-30483600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:30482800-30483600	Active TSS	Stomach Smooth Muscle	stomach
32	chr6:30482800-30483600	Bivalent Enhancer	HepG2	liver
33	chr6:30482800-30483800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:30482800-30483800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:30482800-30483800	Enhancers	HUVEC	blood vessel
36	chr6:30482800-30484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:30483000-30483400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:30483000-30483400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr6:30483000-30483600	Enhancers	Colonic Mucosa	Colon
40	chr6:30483000-30483600	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:30483000-30483600	Enhancers	Placenta	Placenta
42	chr6:30483000-30484200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:30483000-30484400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr6:30483000-30484400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr6:30483000-30484400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:30483000-30484600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:30483000-30484800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:30483000-30484800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr6:30483000-30484800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr6:30483200-30483400	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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