Variant report

Variant	rs544450726
Chromosome Location	chr3:120627086-120627087
allele	G/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	E2F6	chr3:120626471-120627765	H1-hESC	embryonic stem cell:	n/a	chr3:120626891-120626902 chr3:120626933-120626942 chr3:120627221-120627231 chr3:120626891-120626902 chr3:120627080-120627090 chr3:120626891-120626902
2	TEAD4	chr3:120626794-120627403	A549	lung:	n/a	n/a
3	REST	chr3:120626714-120627563	PFSK-1	brain:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
4	MXI1	chr3:120626555-120627334	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZC3H11A	chr3:120627070-120627109	K562	blood:	n/a	n/a
6	PAX5	chr3:120626921-120627152	GM12892	blood:	n/a	n/a
7	REST	chr3:120626659-120627709	MCF-7	breast:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
8	TAF1	chr3:120626821-120627838	H1-neurons	neurons:	n/a	n/a
9	REST	chr3:120626072-120628339	H1-neurons	neurons:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627823-120627833 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
10	REST	chr3:120626867-120627167	PFSK-1	brain:	n/a	chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
11	SP4	chr3:120626625-120627359	H1-hESC	embryonic stem cell:	n/a	chr3:120626931-120626947 chr3:120626929-120626945 chr3:120626800-120626811
12	POLR2A	chr3:120626347-120627836	H1-neurons	neurons:	n/a	n/a
13	SP1	chr3:120626284-120627169	H1-hESC	embryonic stem cell:	n/a	chr3:120626800-120626812 chr3:120627026-120627038 chr3:120626932-120626941 chr3:120626932-120626946 chr3:120626803-120626824 chr3:120627026-120627038 chr3:120626973-120626982 chr3:120626931-120626943 chr3:120626932-120626942 chr3:120627023-120627037 chr3:120626931-120626943 chr3:120626932-120626942 chr3:120626800-120626811 chr3:120626932-120626941 chr3:120626933-120626942
14	REST	chr3:120626749-120627416	GM12878	blood:	n/a	chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
15	MAX	chr3:120626803-120627716	ECC-1	luminal epithelium:	n/a	n/a
16	REST	chr3:120626817-120627393	HepG2	liver:	n/a	chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
17	MAZ	chr3:120626708-120627468	K562	blood:	n/a	chr3:120626801-120626811
18	RFX5	chr3:120626220-120627446	SK-N-SH	brain:	n/a	n/a
19	HA-E2F1	chr3:120626513-120627604	MCF-7	breast:	n/a	chr3:120626891-120626902 chr3:120626933-120626942 chr3:120627221-120627231 chr3:120626891-120626902 chr3:120627080-120627090 chr3:120626891-120626902
20	MYC	chr3:120627011-120627101	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr3:120626461-120627584	A549	lung:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
22	REST	chr3:120626448-120627830	HL-60	blood:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
23	MXI1	chr3:120626945-120627495	HepG2	liver:	n/a	n/a
24	HMGN3	chr3:120626866-120627265	K562	blood:	n/a	n/a
25	SIN3AK20	chr3:120626857-120627238	H1-hESC	embryonic stem cell:	n/a	n/a
26	CCNT2	chr3:120626977-120627177	K562	blood:	n/a	n/a
27	RAD21	chr3:120626513-120627627	H1-hESC	embryonic stem cell:	n/a	chr3:120627092-120627101
28	PBX3	chr3:120626590-120627099	SK-N-SH	brain:	n/a	chr3:120626752-120626772 chr3:120626765-120626774
29	POLR2A	chr3:120627015-120627269	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr3:120626641-120627938	U87	brain:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627823-120627833 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
31	TAF1	chr3:120626902-120627279	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr3:120626569-120627443	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTBP2	chr3:120626470-120627895	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr3:120626615-120627700	ECC-1	luminal epithelium:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
35	EGR1	chr3:120626763-120627264	MCF-7	breast:	n/a	chr3:120626924-120626934 chr3:120626934-120626947 chr3:120626971-120626981
36	HDAC2	chr3:120626832-120627378	MCF-7	breast:	n/a	chr3:120627062-120627081
37	EGR1	chr3:120626809-120627186	K562	blood:	n/a	chr3:120626924-120626934 chr3:120626934-120626947 chr3:120626971-120626981
38	TCF12	chr3:120626727-120627678	ECC-1	luminal epithelium:	n/a	n/a
39	TEAD4	chr3:120626524-120627234	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr3:120626466-120627458	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr3:120626884-120627180	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFIC	chr3:120626853-120627380	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr3:120626916-120627218	Hela-S3	cervix:	n/a	chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
44	REST	chr3:120626793-120627620	U87	brain:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
45	UBTF	chr3:120626870-120627649	K562	blood:	n/a	n/a
46	REST	chr3:120626624-120627559	MCF-7	breast:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
47	REST	chr3:120626618-120627571	PFSK-1	brain:	n/a	chr3:120627472-120627485 chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
48	REST	chr3:120626889-120627311	HepG2	liver:	n/a	chr3:120627068-120627081 chr3:120627061-120627081 chr3:120627061-120627081 chr3:120627061-120627075 chr3:120627065-120627078 chr3:120627061-120627081
49	POLR2A	chr3:120626967-120627474	H1-hESC	embryonic stem cell:	n/a	n/a
50	MXI1	chr3:120626257-120628925	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:120627085-120627135	GM19239	blood:	n/a
2	chr3:120627085-120627135	HEK293	kidney:	embryo
3	chr3:120627085-120627135	HL-60	blood:	n/a
4	chr3:120627085-120627135	ProgFib	skin:	n/a
5	chr3:120627085-120627135	HepG2	liver:	n/a
6	chr3:120627085-120627135	T-47D	breast:	n/a
7	chr3:120627085-120627135	HEEpiC	esophagus:	n/a
8	chr3:120627085-120627135	GM06990	blood:	n/a
9	chr3:120627085-120627135	SK-N-SH_RA	brain:	n/a
10	chr3:120627085-120627135	NHBE	bronchial:	n/a
11	chr3:120627085-120627135	A549	lung:	n/a
12	chr3:120627085-120627135	HMEC	breast:	n/a
13	chr3:120627085-120627135	GM12891	blood:	n/a
14	chr3:120627085-120627135	HRCEpiC	kidney:	n/a
15	chr3:120627085-120627135	RPTEC	kidney:	n/a
16	chr3:120627085-120627135	MCF10A-Er-Src	breast:	n/a
17	chr3:120627085-120627135	IMR90	lung:	fetal
18	chr3:120627085-120627135	Hela-S3	cervix:	n/a
19	chr3:120627085-120627135	HUVEC	blood vessel:	n/a
20	chr3:120627085-120627135	PrEC	prostate:	n/a
21	chr3:120627085-120627135	AG10803	skin:	n/a
22	chr3:120627085-120627135	CMK	blood:	n/a
23	chr3:120627085-120627135	HAEpiC	amniotic membrane:	n/a
24	chr3:120627085-120627135	GM12892	blood:	n/a
25	chr3:120627085-120627135	ECC-1	luminal epithelium:	n/a
26	chr3:120627085-120627135	HCF	heart:	n/a
27	chr3:120627085-120627135	HCM	heart:	n/a
28	chr3:120627085-120627135	SAEC	small airway:	n/a
29	chr3:120627085-120627135	PANC-1	pancreas:	n/a
30	chr3:120627085-120627135	GM12878	blood:	n/a
31	chr3:120627085-120627135	SKMC	muscle:	n/a
32	chr3:120627085-120627135	ovcar-3	ovarian:	n/a
33	chr3:120627085-120627135	Caco-2	colon:	n/a
34	chr3:120627085-120627135	Jurkat	blood:	n/a
35	chr3:120627085-120627135	SK-N-SH	brain:	n/a
36	chr3:120627085-120627135	NH-A	brain:	n/a
37	chr3:120627085-120627135	AoSMC	blood vessel:	n/a
38	chr3:120627085-120627135	LNCaP	prostate:	n/a
39	chr3:120627085-120627135	U87	brain:	n/a
40	chr3:120627085-120627135	H1-hESC	embryonic stem cell:	embryo
41	chr3:120627085-120627135	BJ	skin:	n/a
42	chr3:120627085-120627135	AG09319	gingival:	n/a
43	chr3:120627085-120627135	HRE	kidney:	n/a
44	chr3:120627085-120627135	NB4	blood:	n/a
45	chr3:120627085-120627135	HPAEpiC	pulmonary alveolar:	n/a
46	chr3:120627085-120627135	SK-N-MC	brain:	n/a
47	chr3:120627085-120627135	AG09309	skin:	n/a
48	chr3:120627085-120627135	NHDF-neo	bronchial:	n/a
49	chr3:120627085-120627135	HNPCEpiC	eye:	n/a
50	chr3:120627085-120627135	HCT-116	colon:	n/a

Variant related genes	Relation type
STXBP5L	TF binding region
STXBP5L	CpG island

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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv3431805	chr3:120626112-120628860	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120626000-120627800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:120626200-120628000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr3:120626200-120628000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:120626200-120628600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr3:120626200-120628800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:120626200-120629000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:120626200-120630200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:120626400-120627200	Active TSS	Fetal Brain Female	brain
9	chr3:120626400-120627800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:120626400-120627800	Active TSS	Fetal Brain Male	brain
11	chr3:120626400-120627800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr3:120626400-120628000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr3:120626400-120628000	Active TSS	Fetal Kidney	kidney
14	chr3:120626400-120628400	Active TSS	Brain Cingulate Gyrus	brain
15	chr3:120626400-120628400	Active TSS	Rectal Smooth Muscle	rectum
16	chr3:120626400-120628600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:120626400-120628600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:120626400-120628600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:120626400-120628600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:120626400-120628600	Active TSS	Brain Anterior Caudate	brain
21	chr3:120626400-120628800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr3:120626400-120628800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:120626400-120628800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:120626400-120629200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:120626400-120630400	Active TSS	Brain Angular Gyrus	brain
26	chr3:120626400-120630400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:120626600-120627200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr3:120626600-120627200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:120626600-120627200	Active TSS	Colonic Mucosa	Colon
30	chr3:120626600-120627200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr3:120626600-120627200	Bivalent Enhancer	Left Ventricle	heart
32	chr3:120626600-120627200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr3:120626600-120627200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr3:120626600-120627200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr3:120626600-120627400	Enhancers	Lung	lung
36	chr3:120626600-120627600	Enhancers	Spleen	Spleen
37	chr3:120626600-120627800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:120626600-120627800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr3:120626600-120627800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr3:120626600-120627800	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr3:120626600-120627800	Bivalent/Poised TSS	HSMMtube	muscle
42	chr3:120626600-120628000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr3:120626600-120628000	Bivalent/Poised TSS	HSMM	muscle
44	chr3:120626600-120628200	Bivalent Enhancer	Liver	Liver
45	chr3:120626600-120628200	Active TSS	Brain Substantia Nigra	brain
46	chr3:120626600-120628400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:120626600-120628600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:120626600-120628800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:120626600-120628800	Active TSS	Ovary	ovary
50	chr3:120626600-120629400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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