Variant report

Variant	rs566247207
Chromosome Location	chr6:30182623-30182624
allele	A/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	chr6:30180625-30182700	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:30180590-30182779	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:30179620-30182788	H1-hESC	embryonic stem cell:	n/a	n/a
4	HCFC1	chr6:30180490-30182758	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr6:30180668-30182724	HepG2	liver:	n/a	n/a
6	MXI1	chr6:30179854-30182737	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr6:30180626-30182633	IMR90	lung:	n/a	chr6:30181938-30181948
8	MAX	chr6:30180660-30182722	HepG2	liver:	n/a	chr6:30181938-30181948
9	POLR2A	chr6:30180726-30182624	HepG2	liver:	n/a	n/a
10	RUNX3	chr6:30180695-30182656	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:30180760-30182750	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:30180609-30182657	GM12892	blood:	n/a	n/a
13	MAX	chr6:30180704-30182681	H1-hESC	embryonic stem cell:	n/a	chr6:30181938-30181948
14	MAX	chr6:30180707-30182750	HepG2	liver:	n/a	chr6:30181938-30181948
15	E2F6	chr6:30180626-30182722	H1-hESC	embryonic stem cell:	n/a	chr6:30181418-30181426 chr6:30180996-30181006 chr6:30181418-30181425 chr6:30181418-30181429 chr6:30182075-30182085 chr6:30181418-30181426 chr6:30181418-30181429 chr6:30180796-30180806 chr6:30181415-30181432 chr6:30182017-30182027 chr6:30181933-30181942 chr6:30181418-30181429 chr6:30181415-30181432
16	MTA3	chr6:30180618-30182753	GM12878	blood:	n/a	n/a
17	MAX	chr6:30180540-30182675	HCT-116	colon:	n/a	chr6:30181938-30181948
18	RCOR1	chr6:30180564-30182716	IMR90	lung:	n/a	n/a
19	RFX5	chr6:30179202-30182806	SK-N-SH	brain:	n/a	n/a
20	RFX5	chr6:30180242-30182769	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30033185..30035212-chr6:30180473..30182741,2	MCF-7	breast:
2	chr6:30178310..30184484-chr6:30311860..30320436,13	MCF-7	breast:
3	chr15:75744964..75747465-chr6:30180922..30182722,2	MCF-7	breast:
4	chr6:30182391..30184727-chr6:30190494..30193163,2	MCF-7	breast:
5	chr6:30182145..30184666-chr6:30223310..30225294,2	MCF-7	breast:
6	chr6:30180733..30183619-chr6:30310467..30312981,3	MCF-7	breast:
7	chr6:30068684..30075353-chr6:30179679..30184952,7	MCF-7	breast:
8	chr6:30178635..30184988-chr6:30292357..30296104,9	MCF-7	breast:
9	chr6:30181485..30183400-chr6:30291563..30295527,5	MCF-7	breast:

Variant related genes	Relation type
TRIM26	TF binding region
ENSG00000231074	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction
ENSG00000241370	Chromatin interaction
ENSG00000224372	Chromatin interaction
ENSG00000231226	Chromatin interaction
ENSG00000204616	Chromatin interaction
ENSG00000204619	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv884058	chr6:30182395-30202429	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30180200-30182800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30180400-30182800	Active TSS	HSMM	muscle
3	chr6:30180600-30182800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:30180600-30182800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:30181400-30182800	Flanking Active TSS	Dnd41	blood
6	chr6:30182000-30182800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:30182200-30182800	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr6:30182400-30182800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr6:30182400-30182800	Enhancers	Spleen	Spleen
10	chr6:30182600-30182800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:30182600-30182800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:30182600-30182800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:30182600-30182800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:30182600-30182800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:30182600-30182800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:30182600-30182800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:30182600-30182800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:30182600-30182800	Active TSS	Colonic Mucosa	Colon
19	chr6:30182600-30182800	Enhancers	Esophagus	oesophagus
20	chr6:30182600-30182800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:30182600-30182800	Enhancers	Fetal Intestine Large	intestine
22	chr6:30182600-30182800	Enhancers	Fetal Intestine Small	intestine
23	chr6:30182600-30182800	Enhancers	Fetal Muscle Leg	muscle
24	chr6:30182600-30182800	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:30182600-30182800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:30182600-30182800	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:30182600-30182800	Active TSS	GM12878-XiMat	blood
28	chr6:30182600-30182800	Active TSS	Hela-S3	cervix
29	chr6:30182600-30182800	Flanking Active TSS	HepG2	liver
30	chr6:30182600-30183000	Enhancers	Placenta	Placenta
31	chr6:30182600-30183200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:30182600-30183200	Enhancers	Liver	Liver
33	chr6:30182600-30183200	Enhancers	Fetal Brain Female	brain
34	chr6:30182600-30183200	Weak transcription	HSMMtube	muscle
35	chr6:30182600-30183400	Enhancers	Thymus	Thymus
36	chr6:30182600-30183600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:30182600-30183800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:30182600-30183800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:30182600-30183800	Weak transcription	NHLF	lung
40	chr6:30182600-30184400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:30182600-30184600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:30182600-30185600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:30182600-30186800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:30182600-30187000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr6:30182600-30187000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:30182600-30187000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:30182600-30187000	Weak transcription	Brain Angular Gyrus	brain
48	chr6:30182600-30187000	Weak transcription	Fetal Thymus	thymus
49	chr6:30182600-30187200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:30182600-30187200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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