Variant report

Variant	rs560944889
Chromosome Location	chr6:147525481-147525482
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	REST	chr6:147523374-147526232	H1-neurons	neurons:	n/a	chr6:147525376-147525389
2	TAF1	chr6:147525357-147525885	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr6:147525337-147525918	HL-60	blood:	n/a	n/a
4	ELF1	chr6:147525263-147525857	K562	blood:	n/a	chr6:147525386-147525398 chr6:147525391-147525400 chr6:147525388-147525397 chr6:147525385-147525394 chr6:147525389-147525401
5	MAZ	chr6:147523081-147526390	K562	blood:	n/a	n/a
6	POLR2A	chr6:147523534-147526020	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:147525460-147525750	GM12874	blood:	n/a	n/a
8	POLR2A	chr6:147522937-147526034	K562	blood:	n/a	n/a
9	HCFC1	chr6:147523021-147525697	K562	blood:	n/a	n/a
10	MAX	chr6:147523514-147525872	K562	blood:	n/a	n/a
11	MYC	chr6:147524782-147525491	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr6:147523469-147525845	PANC-1	pancreas:	n/a	n/a
13	TAF1	chr6:147525278-147525929	K562	blood:	n/a	n/a
14	HA-E2F1	chr6:147524663-147525546	Hela-S3	cervix:	n/a	chr6:147525392-147525402 chr6:147525389-147525399 chr6:147524825-147524834 chr6:147525386-147525396
15	POLR2A	chr6:147523562-147525855	Gliobla	brain:	n/a	n/a
16	POLR2A	chr6:147524706-147525859	GM12878	blood:	n/a	n/a
17	UBTF	chr6:147523633-147526451	K562	blood:	n/a	n/a
18	MAX	chr6:147525460-147525946	ECC-1	luminal epithelium:	n/a	n/a
19	TBP	chr6:147524608-147525868	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:147523072-147526476	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr6:147523131-147526026	IMR90	lung:	n/a	n/a
22	EP300	chr6:147525476-147525683	K562	blood:	n/a	chr6:147525502-147525511 chr6:147525476-147525485
23	MXI1	chr6:147523062-147525873	IMR90	lung:	n/a	chr6:147523964-147523973
24	ZBTB7A	chr6:147525386-147525900	ECC-1	luminal epithelium:	n/a	chr6:147525868-147525882
25	POLR2A	chr6:147523101-147525939	GM18505	blood:	n/a	n/a
26	POLR2A	chr6:147523500-147526423	K562	blood:	n/a	n/a
27	POLR2A	chr6:147523491-147526020	H1-neurons	neurons:	n/a	n/a
28	TAF1	chr6:147525236-147525902	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr6:147522918-147526334	GM12891	blood:	n/a	n/a
30	POLR2A	chr6:147522937-147525994	HL-60	blood:	n/a	n/a
31	FOXM1	chr6:147525293-147525956	GM12878	blood:	n/a	n/a
32	SMARCB1	chr6:147523679-147525971	Hela-S3	cervix:	n/a	n/a
33	ETS1	chr6:147524712-147525996	K562	blood:	n/a	chr6:147525389-147525400 chr6:147525386-147525397 chr6:147524778-147524791 chr6:147525496-147525510 chr6:147525383-147525394
34	POLR2A	chr6:147523069-147525928	GM19099	blood:	n/a	n/a
35	POLR2A	chr6:147523076-147525951	GM19193	blood:	n/a	n/a
36	RAD21	chr6:147525444-147525924	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr6:147524507-147525534	GM12891	blood:	n/a	chr6:147524779-147524790 chr6:147525391-147525400 chr6:147525388-147525402 chr6:147525388-147525397 chr6:147525386-147525397 chr6:147525389-147525400 chr6:147525385-147525399 chr6:147525385-147525394
38	POLR2A	chr6:147524731-147525867	GM12878	blood:	n/a	n/a
39	ZBTB7A	chr6:147525337-147525834	K562	blood:	n/a	n/a
40	POLR2A	chr6:147524692-147525524	A549	lung:	n/a	n/a
41	YY1	chr6:147524826-147525516	GM12878	blood:	n/a	chr6:147525391-147525400 chr6:147525388-147525402 chr6:147525388-147525397 chr6:147525386-147525397 chr6:147525389-147525400 chr6:147525385-147525399 chr6:147525385-147525394
42	POLR2A	chr6:147523023-147525871	K562	blood:	n/a	n/a
43	MAX	chr6:147525311-147525877	NB4	blood:	n/a	n/a
44	SIN3AK20	chr6:147525447-147525829	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr6:147523019-147525931	Raji	blood:	n/a	n/a
46	CTCF	chr6:147525420-147525570	AG04449	skin:	n/a	n/a
47	ZBTB7A	chr6:147525393-147525873	K562	blood:	n/a	n/a
48	MXI1	chr6:147525434-147525634	Hela-S3	cervix:	n/a	n/a
49	YY1	chr6:147525465-147525758	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:147522948-147526030	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:147525477-147525527	HUVEC	blood vessel:	n/a
2	chr6:147525477-147525527	PrEC	prostate:	n/a
3	chr6:147525477-147525527	SAEC	small airway:	n/a
4	chr6:147525462-147525512	CMK	blood:	n/a
5	chr6:147525462-147525512	PANC-1	pancreas:	n/a
6	chr6:147525477-147525527	RPTEC	kidney:	n/a
7	chr6:147525462-147525512	HEEpiC	esophagus:	n/a
8	chr6:147525462-147525512	NT2-D1	testis:	n/a
9	chr6:147525477-147525527	MCF-7	breast:	n/a
10	chr6:147525462-147525512	PrEC	prostate:	n/a
11	chr6:147525462-147525512	Hela-S3	cervix:	n/a
12	chr6:147525477-147525527	ProgFib	skin:	n/a
13	chr6:147525477-147525527	HNPCEpiC	eye:	n/a
14	chr6:147525462-147525512	U87	brain:	n/a
15	chr6:147525477-147525527	NB4	blood:	n/a
16	chr6:147525462-147525512	AG09319	gingival:	n/a
17	chr6:147525477-147525527	HL-60	blood:	n/a
18	chr6:147525477-147525527	AG10803	skin:	n/a
19	chr6:147525462-147525512	AG09309	skin:	n/a
20	chr6:147525477-147525527	NH-A	brain:	n/a
21	chr6:147525462-147525512	ovcar-3	ovarian:	n/a
22	chr6:147525462-147525512	HIPEpiC	eye:	n/a
23	chr6:147525477-147525527	Jurkat	blood:	n/a
24	chr6:147525477-147525527	LNCaP	prostate:	n/a
25	chr6:147525477-147525527	BE2_C	brain:	n/a
26	chr6:147525462-147525512	A549	lung:	n/a
27	chr6:147525477-147525527	AG09309	skin:	n/a
28	chr6:147525477-147525527	GM12891	blood:	n/a
29	chr6:147525462-147525512	NB4	blood:	n/a
30	chr6:147525477-147525527	SK-N-SH_RA	brain:	n/a
31	chr6:147525477-147525527	K562	blood:	n/a
32	chr6:147525462-147525512	HL-60	blood:	n/a
33	chr6:147525477-147525527	SKMC	muscle:	n/a
34	chr6:147525477-147525527	GM12878	blood:	n/a
35	chr6:147525462-147525512	MCF-7	breast:	n/a
36	chr6:147525477-147525527	HIPEpiC	eye:	n/a
37	chr6:147525477-147525527	HRPEpiC	eye:	n/a
38	chr6:147525462-147525512	ECC-1	luminal epithelium:	n/a
39	chr6:147525462-147525512	HCM	heart:	n/a
40	chr6:147525477-147525527	ECC-1	luminal epithelium:	n/a
41	chr6:147525462-147525512	NH-A	brain:	n/a
42	chr6:147525477-147525527	Hela-S3	cervix:	n/a
43	chr6:147525462-147525512	GM12891	blood:	n/a
44	chr6:147525477-147525527	GM06990	blood:	n/a
45	chr6:147525477-147525527	Caco-2	colon:	n/a
46	chr6:147525462-147525512	AoSMC	blood vessel:	n/a
47	chr6:147525462-147525512	BE2_C	brain:	n/a
48	chr6:147525477-147525527	A549	lung:	n/a
49	chr6:147525462-147525512	AG04449	skin:	fetal
50	chr6:147525462-147525512	IMR90	lung:	fetal

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	chr6:135817566..135820390-chr6:147524276..147525845,2	K562	blood:
4	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
5	chr6:147478214..147481987-chr6:147524471..147526667,3	MCF-7	breast:
6	chr6:147178857..147181755-chr6:147524235..147526085,2	MCF-7	breast:
7	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
8	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
9	chr6:147233166..147237387-chr6:147522685..147525854,6	MCF-7	breast:

Variant related genes	Relation type
STXBP5	TF binding region
STXBP5-AS1	TF binding region
STXBP5	CpG island
STXBP5-AS1	CpG island
ENSG00000233452	Chromatin interaction
ENSG00000227748	Chromatin interaction
ENSG00000135541	Chromatin interaction
ENSG00000231028	Chromatin interaction
ENSG00000196634	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3387409	chr6:147524059-147526607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3338422	chr6:147524084-147526632	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147522800-147526200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr6:147522800-147528600	Active TSS	Duodenum Mucosa	Duodenum
3	chr6:147522800-147529000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:147523000-147525600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:147523000-147525600	Active TSS	Fetal Brain Female	brain
6	chr6:147523000-147525800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:147523000-147525800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:147523000-147526000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:147523000-147526000	Active TSS	Fetal Kidney	kidney
10	chr6:147523000-147526200	Active TSS	Colon Smooth Muscle	Colon
11	chr6:147523000-147526200	Active TSS	Esophagus	oesophagus
12	chr6:147523000-147526200	Active TSS	Fetal Lung	lung
13	chr6:147523000-147526200	Active TSS	Placenta Amnion	Placenta Amnion
14	chr6:147523000-147526400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:147523000-147526400	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr6:147523000-147526400	Active TSS	Stomach Mucosa	stomach
17	chr6:147523000-147526600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:147523000-147526800	Active TSS	Brain Substantia Nigra	brain
19	chr6:147523000-147526800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:147523000-147526800	Active TSS	Fetal Brain Male	brain
21	chr6:147523000-147527000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:147523000-147527000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:147523000-147527000	Active TSS	Fetal Stomach	stomach
24	chr6:147523000-147527000	Active TSS	Psoas Muscle	Psoas
25	chr6:147523000-147527000	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:147523000-147527000	Active TSS	Thymus	Thymus
27	chr6:147523000-147527000	Active TSS	GM12878-XiMat	blood
28	chr6:147523000-147527000	Active TSS	NH-A	brain
29	chr6:147523000-147527200	Active TSS	Colonic Mucosa	Colon
30	chr6:147523000-147527200	Active TSS	A549	lung
31	chr6:147523000-147527400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:147523000-147527400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:147523000-147527400	Active TSS	Fetal Intestine Small	intestine
34	chr6:147523000-147527600	Active TSS	Fetal Intestine Large	intestine
35	chr6:147523000-147527800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr6:147523000-147528000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
38	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
41	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:147523000-147529200	Active TSS	NHLF	lung
44	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:147523200-147525800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:147523200-147526000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:147523200-147526000	Active TSS	Lung	lung
50	chr6:147523200-147526000	Active TSS	Pancreas	Pancrea

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