Variant report

Variant	rs561912735
Chromosome Location	chr6:147527066-147527067
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	POLR2A	chr6:147526471-147528189	K562	blood:	n/a	n/a
2	TAF1	chr6:147526953-147527261	K562	blood:	n/a	n/a
3	BCLAF1	chr6:147526825-147527464	K562	blood:	n/a	n/a
4	UBTF	chr6:147526720-147527273	K562	blood:	n/a	n/a
5	EP300	chr6:147526699-147527339	GM12878	blood:	n/a	chr6:147527228-147527242 chr6:147526722-147526736
6	RCOR1	chr6:147527051-147527124	GM12878	blood:	n/a	n/a
7	TEAD4	chr6:147526526-147527355	K562	blood:	n/a	n/a
8	ARID3A	chr6:147527046-147527225	HepG2	liver:	n/a	n/a
9	YY1	chr6:147527015-147527172	K562	blood:	n/a	n/a
10	NR2F2	chr6:147526901-147527325	K562	blood:	n/a	n/a
11	CCNT2	chr6:147526769-147527268	K562	blood:	n/a	n/a
12	POLR2A	chr6:147526997-147527197	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF7L2	chr6:147527016-147527382	HEK293	kidney:	n/a	chr6:147527238-147527248
14	POLR2A	chr6:147526930-147527229	K562	blood:	n/a	n/a
15	TAF7	chr6:147526930-147527399	K562	blood:	n/a	n/a
16	ATF1	chr6:147526915-147527250	K562	blood:	n/a	n/a
17	TAF1	chr6:147526363-147527318	K562	blood:	n/a	n/a
18	POLR2A	chr6:147522607-147527416	K562	blood:	n/a	n/a
19	FOS	chr6:147526962-147527441	MCF10A-Er-Src	breast:	n/a	chr6:147527083-147527092
20	RCOR1	chr6:147527034-147527181	HepG2	liver:	n/a	n/a
21	HDAC2	chr6:147526989-147527242	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:147522796-147527921	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:147526633-147527818	K562	blood:	n/a	n/a
24	POLR2A	chr6:147526892-147527269	K562	blood:	n/a	n/a
25	STAT3	chr6:147526997-147527307	MCF10A-Er-Src	breast:	n/a	chr6:147527044-147527055
26	TCF7L2	chr6:147526844-147527393	Hela-S3	cervix:	n/a	chr6:147527238-147527248
27	EP300	chr6:147526874-147527389	K562	blood:	n/a	chr6:147527228-147527242
28	MYC	chr6:147526851-147527332	K562	blood:	n/a	n/a
29	REST	chr6:147526980-147527234	K562	blood:	n/a	n/a
30	TCF7L2	chr6:147526957-147527341	Hela-S3	cervix:	n/a	chr6:147527238-147527248
31	PML	chr6:147526627-147527420	K562	blood:	n/a	n/a
32	TCF7L2	chr6:147527004-147527368	PANC-1	pancreas:	n/a	chr6:147527238-147527248
33	RCOR1	chr6:147526897-147527308	K562	blood:	n/a	n/a
34	CUX1	chr6:147526858-147527365	K562	blood:	n/a	n/a
35	IRF1	chr6:147525380-147528371	K562	blood:	n/a	chr6:147526878-147526890 chr6:147527041-147527055 chr6:147526209-147526220 chr6:147526878-147526890 chr6:147525907-147525916 chr6:147527979-147527993 chr6:147526876-147526893 chr6:147526956-147526968 chr6:147526878-147526895 chr6:147526957-147526967
36	TBL1XR1	chr6:147526718-147528321	K562	blood:	n/a	n/a
37	IRF1	chr6:147525523-147527405	K562	blood:	n/a	chr6:147526878-147526890 chr6:147527041-147527055 chr6:147526209-147526220 chr6:147526878-147526890 chr6:147525907-147525916 chr6:147526876-147526893 chr6:147526956-147526968 chr6:147526878-147526895 chr6:147526957-147526967
38	JUND	chr6:147526924-147527297	K562	blood:	n/a	chr6:147527083-147527092
39	ARID3A	chr6:147526670-147527526	K562	blood:	n/a	chr6:147526834-147526850
40	CEBPB	chr6:147525682-147527227	Hela-S3	cervix:	n/a	chr6:147526571-147526584
41	UBTF	chr6:147523057-147527635	K562	blood:	n/a	n/a
42	CREB1	chr6:147526647-147527716	K562	blood:	n/a	n/a
43	POLR2A	chr6:147526710-147527235	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
2	chr6:147475725..147486468-chr6:147521132..147528058,22	K562	blood:
3	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
4	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
5	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
STXBP5	TF binding region
ENSG00000233452	Chromatin interaction
ENSG00000196634	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1820434	chr6:147518489-147543262	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147522800-147528600	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:147522800-147529000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:147523000-147527200	Active TSS	Colonic Mucosa	Colon
4	chr6:147523000-147527200	Active TSS	A549	lung
5	chr6:147523000-147527400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:147523000-147527400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:147523000-147527400	Active TSS	Fetal Intestine Small	intestine
8	chr6:147523000-147527600	Active TSS	Fetal Intestine Large	intestine
9	chr6:147523000-147527800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr6:147523000-147528000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
12	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
15	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:147523000-147529200	Active TSS	NHLF	lung
18	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:147523200-147527400	Active TSS	Aorta	Aorta
22	chr6:147523200-147527400	Active TSS	HSMMtube	muscle
23	chr6:147523200-147527800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:147523200-147528400	Active TSS	K562	blood
25	chr6:147523200-147528800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:147523400-147527400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:147523400-147527400	Active TSS	HSMM	muscle
28	chr6:147523400-147528400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:147523400-147528600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:147523400-147528600	Active TSS	NHDF-Ad	bronchial
31	chr6:147523400-147528800	Active TSS	Brain Angular Gyrus	brain
32	chr6:147523400-147529000	Active TSS	NHEK	skin
33	chr6:147523400-147529400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:147523600-147527200	Active TSS	Hela-S3	cervix
35	chr6:147524200-147528200	Active TSS	Osteobl	bone
36	chr6:147524400-147527400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:147524400-147529000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:147524600-147527400	Active TSS	Stomach Smooth Muscle	stomach
39	chr6:147524600-147529800	Active TSS	HMEC	breast
40	chr6:147525600-147527200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:147525600-147527400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr6:147525600-147527400	Active TSS	Right Atrium	heart
43	chr6:147525800-147527400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:147525800-147527400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:147525800-147527400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:147525800-147527400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr6:147525800-147529600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:147526000-147527400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:147526000-147527600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:147526000-147528400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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