Variant report

Variant	rs528486905
Chromosome Location	chr1:77333108-77333109
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	RAD21	chr1:77332981-77334547	H1-hESC	embryonic stem cell:	n/a	chr1:77333103-77333117 chr1:77333102-77333121 chr1:77334085-77334092
2	YY1	chr1:77332796-77334723	SK-N-SH	brain:	n/a	chr1:77333104-77333118 chr1:77333963-77333972 chr1:77333966-77333975 chr1:77333069-77333078 chr1:77333114-77333125
3	FOSL1	chr1:77332841-77333259	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:77333040-77333190	HBMEC	blood vessel:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
5	MXI1	chr1:77332726-77336116	SK-N-SH	brain:	n/a	chr1:77333937-77333946
6	CTCF	chr1:77333080-77333230	HRE	kidney:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
7	CTCF	chr1:77333020-77333170	SK-N-SH_RA	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
8	KAP1	chr1:77332945-77334374	HEK293	kidney:	n/a	chr1:77334026-77334034
9	REST	chr1:77332929-77333289	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr1:77332980-77333130	HPF	lung:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
11	CTCF	chr1:77332900-77333190	HCM	heart:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
12	CTCF	chr1:77333097-77333162	Fibrobl	skin:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
13	POLR2A	chr1:77333038-77333258	SK-N-SH	brain:	n/a	n/a
14	TAF1	chr1:77332968-77333361	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr1:77332980-77333130	AG04449	skin:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
16	TCF12	chr1:77332779-77334595	SK-N-SH	brain:	n/a	chr1:77333937-77333947
17	CTCF	chr1:77333080-77333230	A549	lung:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
18	CTBP2	chr1:77332973-77335016	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr1:77332908-77333352	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr1:77332922-77333281	SK-N-SH_RA	brain:	n/a	chr1:77333103-77333117 chr1:77333102-77333121
21	CTCF	chr1:77333000-77333150	HMEC	breast:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
22	TAF1	chr1:77333002-77333604	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr1:77332805-77334598	H1-neurons	neurons:	n/a	chr1:77333889-77333902 chr1:77333900-77333913 chr1:77334116-77334129 chr1:77333443-77333452
24	ZNF143	chr1:77332969-77333259	GM12878	blood:	n/a	n/a
25	CTCF	chr1:77333080-77333230	SK-N-SH_RA	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
26	CTCF	chr1:77333020-77333170	AG09319	gingival:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
27	RAD21	chr1:77332914-77333646	H1-hESC	embryonic stem cell:	n/a	chr1:77333103-77333117 chr1:77333102-77333121
28	CTCF	chr1:77332820-77335195	SK-N-SH	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
29	CTCF	chr1:77333017-77333147	SK-N-SH_RA	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
30	RAD21	chr1:77332917-77333582	SK-N-SH_RA	brain:	n/a	chr1:77333103-77333117 chr1:77333102-77333121
31	CTCF	chr1:77333040-77333190	AG04449	skin:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
32	CHD2	chr1:77332918-77333425	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:77333060-77333210	HFF	foreskin:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
34	CTCF	chr1:77333000-77333150	BE2_C	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
35	PBX3	chr1:77332886-77333352	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr1:77333054-77333170	LNCaP	prostate:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
37	E2F6	chr1:77333001-77334799	H1-hESC	embryonic stem cell:	n/a	chr1:77334163-77334175 chr1:77333069-77333081 chr1:77333070-77333085 chr1:77333069-77333078 chr1:77333111-77333121 chr1:77333964-77333974
38	CTCF	chr1:77333040-77333190	AG10803	skin:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
39	CTCF	chr1:77333040-77333190	HRPEpiC	eye:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
40	CTCF	chr1:77333000-77333150	WERI-Rb-1	eye:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
41	MAX	chr1:77332897-77333342	SK-N-SH	brain:	n/a	chr1:77332913-77332929
42	CTCF	chr1:77333016-77333195	SK-N-SH_RA	brain:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
43	CTCF	chr1:77333040-77333190	NHLF	lung:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
44	CTCF	chr1:77333020-77333170	HEK293	kidney:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
45	FOSL1	chr1:77332903-77333274	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:77332909-77333332	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr1:77333020-77333170	HRE	kidney:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
48	GATA2	chr1:77332952-77333716	SH-SY5Y	brain:	n/a	n/a
49	CTCF	chr1:77333060-77333210	AG09309	skin:	n/a	chr1:77333114-77333127 chr1:77333104-77333117
50	JUND	chr1:77332990-77333389	H1-hESC	embryonic stem cell:	n/a	chr1:77333376-77333384

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:77333074-77333124	SK-N-SH_RA	brain:	n/a
2	chr1:77333074-77333124	SK-N-MC	brain:	n/a
3	chr1:77333074-77333124	PANC-1	pancreas:	n/a
4	chr1:77333074-77333124	AG09319	gingival:	n/a
5	chr1:77333074-77333124	HEEpiC	esophagus:	n/a
6	chr1:77333074-77333124	PrEC	prostate:	n/a
7	chr1:77333074-77333124	NH-A	brain:	n/a
8	chr1:77333074-77333124	BE2_C	brain:	n/a
9	chr1:77333074-77333124	HNPCEpiC	eye:	n/a
10	chr1:77333074-77333124	GM12892	blood:	n/a
11	chr1:77333074-77333124	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:77333074-77333124	HMEC	breast:	n/a
13	chr1:77333074-77333124	HCF	heart:	n/a
14	chr1:77333074-77333124	Jurkat	blood:	n/a
15	chr1:77333074-77333124	NT2-D1	testis:	n/a
16	chr1:77333074-77333124	HRE	kidney:	n/a
17	chr1:77333074-77333124	AG10803	skin:	n/a
18	chr1:77333074-77333124	HepG2	liver:	n/a
19	chr1:77333074-77333124	RPTEC	kidney:	n/a
20	chr1:77333074-77333124	Hela-S3	cervix:	n/a
21	chr1:77333074-77333124	SAEC	small airway:	n/a
22	chr1:77333074-77333124	U87	brain:	n/a
23	chr1:77333074-77333124	SK-N-SH	brain:	n/a
24	chr1:77333074-77333124	AG04450	lung:	fetal
25	chr1:77333074-77333124	GM12878	blood:	n/a
26	chr1:77333074-77333124	GM12891	blood:	n/a
27	chr1:77333074-77333124	HEK293	kidney:	embryo
28	chr1:77333074-77333124	MCF-7	breast:	n/a
29	chr1:77333074-77333124	T-47D	breast:	n/a
30	chr1:77333074-77333124	ProgFib	skin:	n/a
31	chr1:77333074-77333124	HRCEpiC	kidney:	n/a
32	chr1:77333074-77333124	A549	lung:	n/a
33	chr1:77333074-77333124	AG04449	skin:	fetal
34	chr1:77333074-77333124	LNCaP	prostate:	n/a
35	chr1:77333074-77333124	IMR90	lung:	fetal
36	chr1:77333074-77333124	K562	blood:	n/a
37	chr1:77333074-77333124	ECC-1	luminal epithelium:	n/a
38	chr1:77333074-77333124	PFSK-1	brain:	n/a
39	chr1:77333074-77333124	ovcar-3	ovarian:	n/a
40	chr1:77333074-77333124	HIPEpiC	eye:	n/a
41	chr1:77333074-77333124	NB4	blood:	n/a
42	chr1:77333074-77333124	GM19239	blood:	n/a
43	chr1:77333074-77333124	HUVEC	blood vessel:	n/a
44	chr1:77333074-77333124	HCM	heart:	n/a
45	chr1:77333074-77333124	HL-60	blood:	n/a
46	chr1:77333074-77333124	HRPEpiC	eye:	n/a
47	chr1:77333074-77333124	AG09309	skin:	n/a
48	chr1:77333074-77333124	NHBE	bronchial:	n/a
49	chr1:77333074-77333124	HAEpiC	amniotic membrane:	n/a
50	chr1:77333074-77333124	BJ	skin:	n/a

Variant related genes	Relation type
ST6GALNAC5	TF binding region
ST6GALNAC5	CpG island

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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv820187	chr1:77331722-77334433	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77319800-77333200	Weak transcription	Gastric	stomach
2	chr1:77331800-77333200	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:77332200-77335800	Active TSS	Brain Anterior Caudate	brain
4	chr1:77332600-77334400	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr1:77332800-77333200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:77332800-77333200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:77332800-77333200	Active TSS	Brain Hippocampus Middle	brain
8	chr1:77332800-77333200	Active TSS	Fetal Stomach	stomach
9	chr1:77332800-77333200	Bivalent/Poised TSS	HUVEC	blood vessel
10	chr1:77332800-77333400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr1:77332800-77334000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:77332800-77334200	Active TSS	Right Atrium	heart
13	chr1:77332800-77334400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:77332800-77334400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:77332800-77334400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:77332800-77334400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:77332800-77334600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr1:77332800-77334600	Active TSS	NHDF-Ad	bronchial
19	chr1:77332800-77334600	Bivalent/Poised TSS	NHLF	lung
20	chr1:77332800-77334800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:77332800-77334800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
22	chr1:77332800-77334800	Active TSS	Ovary	ovary
23	chr1:77332800-77335000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:77332800-77335000	Active TSS	Aorta	Aorta
25	chr1:77332800-77335200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr1:77332800-77335200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:77332800-77335200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:77332800-77335600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:77332800-77335600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:77332800-77336000	Active TSS	Brain Angular Gyrus	brain
31	chr1:77332800-77336000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:77332800-77336200	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:77332800-77336200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:77332800-77337400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:77333000-77333200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:77333000-77333200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr1:77333000-77333200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr1:77333000-77333200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr1:77333000-77333200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:77333000-77333200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:77333000-77333200	Active TSS	Brain Germinal Matrix	brain
42	chr1:77333000-77333200	Enhancers	Fetal Brain Male	brain
43	chr1:77333000-77333200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr1:77333000-77333200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
45	chr1:77333000-77333200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
46	chr1:77333000-77333200	Enhancers	Pancreas	Pancrea
47	chr1:77333000-77333200	Active TSS	HMEC	breast
48	chr1:77333000-77333200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr1:77333000-77333400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:77333000-77333400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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