Variant report

Variant	rs529242317
Chromosome Location	chr1:197744881-197744882
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	TBP	chr1:197744483-197745241	HepG2	liver:	n/a	n/a
3	ATF3	chr1:197744821-197745227	K562	blood:	n/a	n/a
4	CTCF	chr1:197744840-197744990	GM12872	blood:	n/a	chr1:197744931-197744939
5	TBL1XR1	chr1:197744351-197745176	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:197743783-197745381	K562	blood:	n/a	n/a
7	POLR2A	chr1:197743734-197744912	K562	blood:	n/a	n/a
8	MAX	chr1:197743690-197745561	HepG2	liver:	n/a	chr1:197745220-197745230
9	POLR2A	chr1:197743851-197745447	GM12878	blood:	n/a	n/a
10	HA-E2F1	chr1:197743824-197744915	Hela-S3	cervix:	n/a	chr1:197744187-197744196
11	CTCF	chr1:197744376-197744926	K562	blood:	n/a	n/a
12	ELK1	chr1:197744586-197745089	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:197744760-197744910	AG04450	lung:	n/a	n/a
14	CTCF	chr1:197744740-197744890	WERI-Rb-1	eye:	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	POLR2A	chr1:197744393-197744906	HepG2	liver:	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	ATF2	chr1:197744826-197745189	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:197743797-197744927	K562	blood:	n/a	n/a
23	RAD21	chr1:197744555-197745231	HepG2	liver:	n/a	chr1:197745033-197745046
24	SIN3A	chr1:197743758-197745354	H1-hESC	embryonic stem cell:	n/a	chr1:197744203-197744216
25	FOS	chr1:197744873-197746179	MCF10A-Er-Src	breast:	n/a	chr1:197745744-197745756 chr1:197745744-197745755 chr1:197745745-197745754 chr1:197745747-197745754
26	MAFK	chr1:197744794-197745472	K562	blood:	n/a	n/a
27	HEY1	chr1:197744125-197744888	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:197744856-197745162	K562	blood:	n/a	chr1:197745016-197745033
29	MAX	chr1:197743590-197745268	A549	lung:	n/a	chr1:197745220-197745230
30	POLR2A	chr1:197743817-197745396	ECC-1	luminal epithelium:	n/a	n/a
31	MXI1	chr1:197744377-197745243	Hela-S3	cervix:	n/a	n/a
32	ZMIZ1	chr1:197743884-197745302	K562	blood:	n/a	n/a
33	EP300	chr1:197744351-197745120	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr1:197743683-197745774	Hela-S3	cervix:	n/a	chr1:197745220-197745230
35	ATF3	chr1:197744876-197745151	H1-hESC	embryonic stem cell:	n/a	n/a
36	EBF1	chr1:197744398-197744953	GM12878	blood:	n/a	n/a
37	MYC	chr1:197743820-197745494	K562	blood:	n/a	chr1:197745220-197745230
38	UBTF	chr1:197743645-197745592	K562	blood:	n/a	n/a
39	TEAD4	chr1:197744741-197745412	H1-hESC	embryonic stem cell:	n/a	n/a
40	HCFC1	chr1:197743730-197745300	K562	blood:	n/a	n/a
41	TEAD4	chr1:197744837-197745332	H1-hESC	embryonic stem cell:	n/a	n/a
42	KAP1	chr1:197744429-197745497	HEK293	kidney:	n/a	n/a
43	POLR2A	chr1:197743726-197744907	K562	blood:	n/a	n/a
44	MXI1	chr1:197744785-197745303	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF263	chr1:197743691-197745395	HEK293-T-REx	kidney:	n/a	n/a
46	REST	chr1:197743443-197745086	H1-neurons	neurons:	n/a	n/a
47	SMC3	chr1:197744462-197745746	Hela-S3	cervix:	n/a	n/a
48	ELF1	chr1:197744363-197745033	HCT-116	colon:	n/a	chr1:197744610-197744623
49	POLR2A	chr1:197743750-197745101	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr1:197744546-197745480	HepG2	liver:	n/a	chr1:197745016-197745033

No.	Distal block	Cell Line	Cell type
1	chr1:197715463..197718268-chr1:197744827..197746586,2	K562	blood:
2	chr1:197744558..197746158-chr1:197886522..197888177,2	MCF-7	breast:
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	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:

Variant related genes	Relation type
DENND1B	TF binding region
ENSG00000152348	Chromatin interaction
ENSG00000143355	Chromatin interaction
ENSG00000233040	Chromatin interaction
ENSG00000203724	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	chr1:197742400-197745000	Active TSS	Brain Anterior Caudate	brain
2	chr1:197742400-197745000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:197742600-197745000	Active TSS	Aorta	Aorta
4	chr1:197743000-197745000	Active TSS	Brain Angular Gyrus	brain
5	chr1:197743000-197745000	Active TSS	Fetal Intestine Small	intestine
6	chr1:197743000-197745000	Active TSS	HSMMtube	muscle
7	chr1:197743000-197745200	Active TSS	Fetal Lung	lung
8	chr1:197743200-197745000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:197743200-197745200	Active TSS	Right Ventricle	heart
10	chr1:197743400-197745000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:197743400-197745000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:197743400-197745000	Active TSS	Fetal Intestine Large	intestine
13	chr1:197743400-197745000	Active TSS	Psoas Muscle	Psoas
14	chr1:197743400-197745200	Active TSS	Fetal Brain Female	brain
15	chr1:197743400-197745400	Active TSS	Brain Germinal Matrix	brain
16	chr1:197743600-197745000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:197743600-197745000	Active TSS	Colon Smooth Muscle	Colon
18	chr1:197743600-197745000	Active TSS	Ovary	ovary
19	chr1:197743600-197745000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr1:197743600-197745200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:197743600-197745200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:197743600-197745400	Active TSS	Brain Cingulate Gyrus	brain
23	chr1:197743800-197745000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:197743800-197745000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:197743800-197745000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:197743800-197745000	Active TSS	Gastric	stomach
27	chr1:197743800-197745000	Active TSS	Left Ventricle	heart
28	chr1:197743800-197745000	Active TSS	Pancreas	Pancrea
29	chr1:197743800-197745200	Active TSS	Brain Substantia Nigra	brain
30	chr1:197743800-197745200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:197743800-197745400	Active TSS	Fetal Kidney	kidney
32	chr1:197743800-197745400	Active TSS	Stomach Smooth Muscle	stomach
33	chr1:197743800-197745600	Active TSS	Rectal Smooth Muscle	rectum
34	chr1:197744200-197745200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:197744400-197745000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:197744400-197745400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:197744400-197745600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:197744600-197745000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:197744600-197745000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:197744600-197745000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr1:197744600-197745000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:197744600-197745000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:197744600-197745000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr1:197744600-197745000	Enhancers	Fetal Brain Male	brain
45	chr1:197744600-197745000	Flanking Active TSS	Lung	lung
46	chr1:197744600-197745000	Flanking Active TSS	HMEC	breast
47	chr1:197744600-197745000	Flanking Active TSS	HSMM	muscle
48	chr1:197744600-197745200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:197744600-197745200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:197744600-197745200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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