Variant report

Variant	rs577536597
Chromosome Location	chr6:147524847-147524848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

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	GTF2F1	chr6:147524793-147524958	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr6:147523081-147526390	K562	blood:	n/a	n/a
4	RAD21	chr6:147524147-147525102	SK-N-SH_RA	brain:	n/a	n/a
5	IRF1	chr6:147522768-147525022	K562	blood:	n/a	n/a
6	MYC	chr6:147524844-147525060	MCF-7	breast:	n/a	n/a
7	POLR2A	chr6:147523534-147526020	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr6:147523481-147525022	Hela-S3	cervix:	n/a	chr6:147523834-147523844
9	SMC3	chr6:147523692-147525036	Hela-S3	cervix:	n/a	chr6:147524847-147524857
10	ZBTB7A	chr6:147524593-147525302	K562	blood:	n/a	n/a
11	POLR2A	chr6:147522937-147526034	K562	blood:	n/a	n/a
12	TAF1	chr6:147524436-147525235	K562	blood:	n/a	n/a
13	MAX	chr6:147523500-147525253	MCF-7	breast:	n/a	n/a
14	HCFC1	chr6:147523021-147525697	K562	blood:	n/a	n/a
15	MAX	chr6:147523514-147525872	K562	blood:	n/a	n/a
16	MYC	chr6:147524782-147525491	MCF-7	breast:	n/a	n/a
17	POLR2A	chr6:147524553-147525250	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr6:147524773-147524990	SK-N-SH	brain:	n/a	n/a
19	SIN3AK20	chr6:147523469-147525845	PANC-1	pancreas:	n/a	n/a
20	ZNF143	chr6:147523104-147525159	GM12878	blood:	n/a	chr6:147523629-147523638 chr6:147523631-147523640 chr6:147523629-147523647
21	HA-E2F1	chr6:147524663-147525546	Hela-S3	cervix:	n/a	chr6:147525392-147525402 chr6:147525389-147525399 chr6:147524825-147524834 chr6:147525386-147525396
22	POLR2A	chr6:147524532-147525370	ECC-1	luminal epithelium:	n/a	n/a
23	SIN3A	chr6:147523596-147524866	GM12878	blood:	n/a	n/a
24	MAX	chr6:147524512-147525167	SK-N-SH	brain:	n/a	n/a
25	CHD2	chr6:147523175-147525079	GM12878	blood:	n/a	chr6:147523834-147523844
26	POLR2A	chr6:147523562-147525855	Gliobla	brain:	n/a	n/a
27	TCF3	chr6:147524821-147525071	GM12878	blood:	n/a	n/a
28	TEAD4	chr6:147522895-147525167	K562	blood:	n/a	n/a
29	POLR2A	chr6:147524706-147525859	GM12878	blood:	n/a	n/a
30	UBTF	chr6:147523633-147526451	K562	blood:	n/a	n/a
31	TBP	chr6:147524608-147525868	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:147524741-147525118	GM12891	blood:	n/a	n/a
33	TAL1	chr6:147523054-147524988	K562	blood:	n/a	n/a
34	MAX	chr6:147523013-147525173	ECC-1	luminal epithelium:	n/a	n/a
35	TRIM28	chr6:147522956-147524903	K562	blood:	n/a	chr6:147524405-147524413
36	ATF3	chr6:147524738-147525057	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:147523601-147525003	K562	blood:	n/a	n/a
38	POLR2A	chr6:147524468-147525216	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr6:147523072-147526476	Hela-S3	cervix:	n/a	n/a
40	MYBL2	chr6:147524348-147525108	HepG2	liver:	n/a	n/a
41	RAD21	chr6:147523131-147526026	IMR90	lung:	n/a	n/a
42	MXI1	chr6:147523062-147525873	IMR90	lung:	n/a	chr6:147523964-147523973
43	GTF2B	chr6:147524475-147525000	K562	blood:	n/a	n/a
44	NRF1	chr6:147524638-147524988	K562	blood:	n/a	chr6:147524821-147524835 chr6:147524824-147524838 chr6:147524826-147524835 chr6:147524824-147524835 chr6:147524824-147524835 chr6:147524824-147524833
45	ELF1	chr6:147523147-147524960	HCT-116	colon:	n/a	n/a
46	ARID3A	chr6:147524603-147524990	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:147523101-147525939	GM18505	blood:	n/a	n/a
48	POLR2A	chr6:147523500-147526423	K562	blood:	n/a	n/a
49	POLR2A	chr6:147524588-147525225	HCT-116	colon:	n/a	n/a
50	POLR2A	chr6:147523491-147526020	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:147524841-147524891	K562	blood:	n/a
2	chr6:147524841-147524891	LNCaP	prostate:	n/a
3	chr6:147524841-147524891	PrEC	prostate:	n/a
4	chr6:147524841-147524891	NT2-D1	testis:	n/a
5	chr6:147524841-147524891	HCPEpiC	choroid plexus:	n/a
6	chr6:147524841-147524891	HCT-116	colon:	n/a
7	chr6:147524841-147524891	HCM	heart:	n/a
8	chr6:147524841-147524891	GM12892	blood:	n/a
9	chr6:147524841-147524891	A549	lung:	n/a
10	chr6:147524841-147524891	HepG2	liver:	n/a
11	chr6:147524841-147524891	HAEpiC	amniotic membrane:	n/a
12	chr6:147524841-147524891	AoSMC	blood vessel:	n/a
13	chr6:147524841-147524891	HRE	kidney:	n/a
14	chr6:147524841-147524891	HEK293	kidney:	embryo
15	chr6:147524841-147524891	HRCEpiC	kidney:	n/a
16	chr6:147524841-147524891	AG04449	skin:	fetal
17	chr6:147524841-147524891	AG10803	skin:	n/a
18	chr6:147524841-147524891	ECC-1	luminal epithelium:	n/a
19	chr6:147524841-147524891	NH-A	brain:	n/a
20	chr6:147524841-147524891	HL-60	blood:	n/a
21	chr6:147524841-147524891	PANC-1	pancreas:	n/a
22	chr6:147524841-147524891	Jurkat	blood:	n/a
23	chr6:147524841-147524891	BE2_C	brain:	n/a
24	chr6:147524841-147524891	PFSK-1	brain:	n/a
25	chr6:147524841-147524891	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:147524841-147524891	GM12878	blood:	n/a
27	chr6:147524841-147524891	IMR90	lung:	fetal
28	chr6:147524841-147524891	NB4	blood:	n/a
29	chr6:147524841-147524891	U87	brain:	n/a
30	chr6:147524841-147524891	CMK	blood:	n/a
31	chr6:147524841-147524891	T-47D	breast:	n/a
32	chr6:147524841-147524891	HRPEpiC	eye:	n/a
33	chr6:147524841-147524891	Caco-2	colon:	n/a
34	chr6:147524841-147524891	NHBE	bronchial:	n/a
35	chr6:147524841-147524891	HIPEpiC	eye:	n/a
36	chr6:147524841-147524891	Hela-S3	cervix:	n/a
37	chr6:147524841-147524891	ovcar-3	ovarian:	n/a
38	chr6:147524841-147524891	HMEC	breast:	n/a
39	chr6:147524841-147524891	GM19239	blood:	n/a
40	chr6:147524841-147524891	MCF10A-Er-Src	breast:	n/a
41	chr6:147524841-147524891	NHDF-neo	bronchial:	n/a
42	chr6:147524841-147524891	GM06990	blood:	n/a
43	chr6:147524841-147524891	SAEC	small airway:	n/a
44	chr6:147524841-147524891	AG09309	skin:	n/a
45	chr6:147524841-147524891	AG04450	lung:	fetal
46	chr6:147524841-147524891	MCF-7	breast:	n/a
47	chr6:147524841-147524891	SKMC	muscle:	n/a
48	chr6:147524841-147524891	SK-N-SH	brain:	n/a
49	chr6:147524841-147524891	HCF	heart:	n/a
50	chr6:147524841-147524891	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:147177851..147181465-chr6:147522179..147525344,4	K562	blood:
2	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
3	chr6:147475725..147486468-chr6:147521132..147528058,22	K562	blood:
4	chr6:135817566..135820390-chr6:147524276..147525845,2	K562	blood:
5	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
6	chr6:147478214..147481987-chr6:147524471..147526667,3	MCF-7	breast:
7	chr6:147178857..147181755-chr6:147524235..147526085,2	MCF-7	breast:
8	chr6:147454410..147457334-chr6:147523765..147525328,2	MCF-7	breast:
9	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
10	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
11	chr6:147233166..147237387-chr6:147522685..147525854,6	MCF-7	breast:

No data

Variant related genes	Relation type
STXBP5-AS1	TF binding region
STXBP5	TF binding region
STXBP5-AS1	CpG island
STXBP5	CpG island
ENSG00000196634	Chromatin interaction
ENSG00000231028	Chromatin interaction
ENSG00000135541	Chromatin interaction
ENSG00000233452	Chromatin interaction
ENSG00000227748	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	chr6:147523000-147525400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:147523000-147525400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:147523000-147525400	Active TSS	Brain Germinal Matrix	brain
7	chr6:147523000-147525600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:147523000-147525600	Active TSS	Fetal Brain Female	brain
9	chr6:147523000-147525800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:147523000-147525800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:147523000-147526000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:147523000-147526000	Active TSS	Fetal Kidney	kidney
13	chr6:147523000-147526200	Active TSS	Colon Smooth Muscle	Colon
14	chr6:147523000-147526200	Active TSS	Esophagus	oesophagus
15	chr6:147523000-147526200	Active TSS	Fetal Lung	lung
16	chr6:147523000-147526200	Active TSS	Placenta Amnion	Placenta Amnion
17	chr6:147523000-147526400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:147523000-147526400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr6:147523000-147526400	Active TSS	Stomach Mucosa	stomach
20	chr6:147523000-147526600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:147523000-147526800	Active TSS	Brain Substantia Nigra	brain
22	chr6:147523000-147526800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:147523000-147526800	Active TSS	Fetal Brain Male	brain
24	chr6:147523000-147527000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:147523000-147527000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:147523000-147527000	Active TSS	Fetal Stomach	stomach
27	chr6:147523000-147527000	Active TSS	Psoas Muscle	Psoas
28	chr6:147523000-147527000	Active TSS	Rectal Smooth Muscle	rectum
29	chr6:147523000-147527000	Active TSS	Thymus	Thymus
30	chr6:147523000-147527000	Active TSS	GM12878-XiMat	blood
31	chr6:147523000-147527000	Active TSS	NH-A	brain
32	chr6:147523000-147527200	Active TSS	Colonic Mucosa	Colon
33	chr6:147523000-147527200	Active TSS	A549	lung
34	chr6:147523000-147527400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:147523000-147527400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:147523000-147527400	Active TSS	Fetal Intestine Small	intestine
37	chr6:147523000-147527600	Active TSS	Fetal Intestine Large	intestine
38	chr6:147523000-147527800	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:147523000-147528000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
41	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
44	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:147523000-147529200	Active TSS	NHLF	lung
47	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:147523200-147525000	Bivalent/Poised TSS	HepG2	liver

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