Variant report

Variant	rs551052659
Chromosome Location	chr1:197744364-197744365
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	TCF7L2	chr1:197743873-197745348	HCT-116	colon:	n/a	n/a
2	MAZ	chr1:197744112-197744796	GM12878	blood:	n/a	n/a
3	ZBTB7A	chr1:197744222-197744389	HepG2	liver:	n/a	n/a
4	TBL1XR1	chr1:197744351-197745176	GM12878	blood:	n/a	n/a
5	PAX5	chr1:197743880-197744796	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:197744346-197744710	U87	brain:	n/a	n/a
7	HEY1	chr1:197743828-197744873	K562	blood:	n/a	n/a
8	BHLHE40	chr1:197743783-197745381	K562	blood:	n/a	n/a
9	POLR2A	chr1:197743734-197744912	K562	blood:	n/a	n/a
10	MAX	chr1:197743690-197745561	HepG2	liver:	n/a	chr1:197745220-197745230
11	YY1	chr1:197743957-197744750	K562	blood:	n/a	chr1:197744162-197744176 chr1:197744067-197744081
12	POLR2A	chr1:197743851-197745447	GM12878	blood:	n/a	n/a
13	HA-E2F1	chr1:197743824-197744915	Hela-S3	cervix:	n/a	chr1:197744187-197744196
14	TAF1	chr1:197744266-197744828	A549	lung:	n/a	n/a
15	POLR2A	chr1:197743902-197744956	GM18505	blood:	n/a	n/a
16	ZEB1	chr1:197744332-197745376	HepG2	liver:	n/a	chr1:197744663-197744672
17	FOXM1	chr1:197744319-197744855	GM12878	blood:	n/a	n/a
18	MAX	chr1:197743681-197745481	K562	blood:	n/a	chr1:197745220-197745230
19	POLR2A	chr1:197743704-197745714	K562	blood:	n/a	n/a
20	ELF1	chr1:197744317-197745061	MCF-7	breast:	n/a	chr1:197744610-197744623
21	POLR2A	chr1:197743797-197744927	K562	blood:	n/a	n/a
22	SIN3A	chr1:197743758-197745354	H1-hESC	embryonic stem cell:	n/a	chr1:197744203-197744216
23	GTF2B	chr1:197744224-197744724	K562	blood:	n/a	n/a
24	EGR1	chr1:197744097-197744764	MCF-7	breast:	n/a	chr1:197744370-197744384
25	POLR2A	chr1:197743671-197744594	HUVEC	blood vessel:	n/a	n/a
26	HEY1	chr1:197744125-197744888	HepG2	liver:	n/a	n/a
27	MAX	chr1:197743590-197745268	A549	lung:	n/a	chr1:197745220-197745230
28	POLR2A	chr1:197744262-197744829	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:197743981-197744880	HEK293	kidney:	n/a	n/a
30	POLR2A	chr1:197743817-197745396	ECC-1	luminal epithelium:	n/a	n/a
31	ZMIZ1	chr1:197743884-197745302	K562	blood:	n/a	n/a
32	EP300	chr1:197744351-197745120	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr1:197743683-197745774	Hela-S3	cervix:	n/a	chr1:197745220-197745230
34	MYC	chr1:197743820-197745494	K562	blood:	n/a	chr1:197745220-197745230
35	UBTF	chr1:197743645-197745592	K562	blood:	n/a	n/a
36	HCFC1	chr1:197743730-197745300	K562	blood:	n/a	n/a
37	EGR1	chr1:197744049-197744806	ECC-1	luminal epithelium:	n/a	chr1:197744067-197744077 chr1:197744370-197744384
38	POLR2A	chr1:197743726-197744907	K562	blood:	n/a	n/a
39	ZNF263	chr1:197743691-197745395	HEK293-T-REx	kidney:	n/a	n/a
40	ZBTB7A	chr1:197743816-197744803	K562	blood:	n/a	n/a
41	REST	chr1:197743443-197745086	H1-neurons	neurons:	n/a	n/a
42	POU2F2	chr1:197744331-197744767	GM12891	blood:	n/a	n/a
43	ELF1	chr1:197744363-197745033	HCT-116	colon:	n/a	chr1:197744610-197744623
44	POLR2A	chr1:197743750-197745101	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:197744281-197744812	GM12891	blood:	n/a	n/a
46	ZEB1	chr1:197744227-197745094	GM12878	blood:	n/a	chr1:197744663-197744672
47	YY1	chr1:197743813-197744851	K562	blood:	n/a	chr1:197744162-197744176 chr1:197744067-197744081
48	ELF1	chr1:197744328-197745185	MCF-7	breast:	n/a	chr1:197744610-197744623
49	EGR1	chr1:197744203-197744782	MCF-7	breast:	n/a	chr1:197744370-197744384
50	JUND	chr1:197743815-197745916	K562	blood:	n/a	chr1:197745744-197745756 chr1:197745745-197745754 chr1:197745747-197745754

No.	Distal block	Cell Line	Cell type
1	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:
2	chr1:197743551..197744408-chr17:7591641..7592156,2	NB4	blood:
3	chr1:197744364..197744977-chr5:81267510..81268258,2	HCT-116	colon:
4	chr1:197715463..197718268-chr1:197744051..197746586,3	K562	blood:
5	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
6	chr1:42800664..42801416-chr1:197743885..197744472,2	Hela-S3	cervix:
7	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:

Variant related genes	Relation type
DENND1B	TF binding region
ENSG00000203724	Chromatin interaction
ENSG00000141499	Chromatin interaction
ENSG00000198815	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000233040	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3442149	chr1:197743379-197745627	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:197742400-197744800	Active TSS	Colonic Mucosa	Colon
2	chr1:197742400-197745000	Active TSS	Brain Anterior Caudate	brain
3	chr1:197742400-197745000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:197742600-197744600	Active TSS	Thymus	Thymus
5	chr1:197742600-197744800	Active TSS	K562	blood
6	chr1:197742600-197744800	Active TSS	NHLF	lung
7	chr1:197742600-197745000	Active TSS	Aorta	Aorta
8	chr1:197742800-197744600	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:197742800-197744600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:197742800-197744600	Active TSS	Fetal Thymus	thymus
11	chr1:197742800-197744600	Active TSS	GM12878-XiMat	blood
12	chr1:197742800-197744800	Active TSS	Duodenum Mucosa	Duodenum
13	chr1:197742800-197744800	Active TSS	Fetal Stomach	stomach
14	chr1:197742800-197744800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:197743000-197744600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:197743000-197744600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:197743000-197744600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr1:197743000-197744600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:197743000-197744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:197743000-197744600	Active TSS	NHEK	skin
21	chr1:197743000-197744800	Active TSS	Fetal Muscle Leg	muscle
22	chr1:197743000-197744800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr1:197743000-197745000	Active TSS	Brain Angular Gyrus	brain
24	chr1:197743000-197745000	Active TSS	Fetal Intestine Small	intestine
25	chr1:197743000-197745000	Active TSS	HSMMtube	muscle
26	chr1:197743000-197745200	Active TSS	Fetal Lung	lung
27	chr1:197743200-197744600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:197743200-197744600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr1:197743200-197744600	Active TSS	Dnd41	blood
30	chr1:197743200-197744600	Active TSS	HMEC	breast
31	chr1:197743200-197744600	Active TSS	NH-A	brain
32	chr1:197743200-197744800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr1:197743200-197744800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:197743200-197744800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:197743200-197745000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:197743200-197745200	Active TSS	Right Ventricle	heart
37	chr1:197743400-197744400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:197743400-197744600	Active TSS	Primary B cells from peripheral blood	blood
39	chr1:197743400-197744600	Active TSS	Primary hematopoietic stem cells	blood
40	chr1:197743400-197744600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:197743400-197744600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:197743400-197744800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:197743400-197744800	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr1:197743400-197744800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:197743400-197744800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:197743400-197744800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:197743400-197744800	Active TSS	A549	lung
48	chr1:197743400-197744800	Active TSS	Hela-S3	cervix
49	chr1:197743400-197744800	Active TSS	HepG2	liver
50	chr1:197743400-197744800	Active TSS	NHDF-Ad	bronchial

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