Variant report

Variant	rs200338752
Chromosome Location	chr1:197744754-197744755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 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	POLR2A	chr1:197744446-197744782	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF7L2	chr1:197743873-197745348	HCT-116	colon:	n/a	n/a
3	MAZ	chr1:197744112-197744796	GM12878	blood:	n/a	n/a
4	TBP	chr1:197744483-197745241	HepG2	liver:	n/a	n/a
5	TBP	chr1:197744498-197744787	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBL1XR1	chr1:197744351-197745176	GM12878	blood:	n/a	n/a
7	GATA3	chr1:197744391-197744791	T-47D	breast:	n/a	n/a
8	CTCF	chr1:197744620-197744770	GM12873	blood:	n/a	n/a
9	USF2	chr1:197744602-197744796	H1-hESC	embryonic stem cell:	n/a	n/a
10	PAX5	chr1:197743880-197744796	GM12892	blood:	n/a	n/a
11	HEY1	chr1:197743828-197744873	K562	blood:	n/a	n/a
12	POLR2A	chr1:197744429-197744840	HepG2	liver:	n/a	n/a
13	BHLHE40	chr1:197743783-197745381	K562	blood:	n/a	n/a
14	BHLHE40	chr1:197744371-197744802	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:197743734-197744912	K562	blood:	n/a	n/a
16	MAX	chr1:197743690-197745561	HepG2	liver:	n/a	chr1:197745220-197745230
17	POLR2A	chr1:197743851-197745447	GM12878	blood:	n/a	n/a
18	HA-E2F1	chr1:197743824-197744915	Hela-S3	cervix:	n/a	chr1:197744187-197744196
19	CTCF	chr1:197744376-197744926	K562	blood:	n/a	n/a
20	TAF1	chr1:197744266-197744828	A549	lung:	n/a	n/a
21	ELK1	chr1:197744586-197745089	Hela-S3	cervix:	n/a	n/a
22	ETS1	chr1:197744457-197744790	GM12878	blood:	n/a	n/a
23	YY1	chr1:197744407-197744782	HCT-116	colon:	n/a	n/a
24	CHD1	chr1:197744595-197744772	GM12878	blood:	n/a	n/a
25	CTCF	chr1:197744740-197744890	WERI-Rb-1	eye:	n/a	n/a
26	POLR2A	chr1:197743902-197744956	GM18505	blood:	n/a	n/a
27	ZEB1	chr1:197744332-197745376	HepG2	liver:	n/a	chr1:197744663-197744672
28	FOXM1	chr1:197744319-197744855	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:197744393-197744906	HepG2	liver:	n/a	n/a
30	MAX	chr1:197743681-197745481	K562	blood:	n/a	chr1:197745220-197745230
31	POLR2A	chr1:197743704-197745714	K562	blood:	n/a	n/a
32	ELF1	chr1:197744317-197745061	MCF-7	breast:	n/a	chr1:197744610-197744623
33	POLR2A	chr1:197743797-197744927	K562	blood:	n/a	n/a
34	RAD21	chr1:197744555-197745231	HepG2	liver:	n/a	chr1:197745033-197745046
35	CTCF	chr1:197744640-197744790	AG10803	skin:	n/a	n/a
36	CTCF	chr1:197744620-197744770	GM12870	blood:	n/a	n/a
37	SIN3A	chr1:197743758-197745354	H1-hESC	embryonic stem cell:	n/a	chr1:197744203-197744216
38	ZNF384	chr1:197744495-197744757	K562	blood:	n/a	n/a
39	CHD2	chr1:197744419-197744824	HepG2	liver:	n/a	n/a
40	EGR1	chr1:197744097-197744764	MCF-7	breast:	n/a	chr1:197744370-197744384
41	HEY1	chr1:197744125-197744888	HepG2	liver:	n/a	n/a
42	SPI1	chr1:197744394-197744754	GM12878	blood:	n/a	n/a
43	MAX	chr1:197743590-197745268	A549	lung:	n/a	chr1:197745220-197745230
44	POLR2A	chr1:197744262-197744829	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:197743981-197744880	HEK293	kidney:	n/a	n/a
46	POLR2A	chr1:197743817-197745396	ECC-1	luminal epithelium:	n/a	n/a
47	MXI1	chr1:197744377-197745243	Hela-S3	cervix:	n/a	n/a
48	ZMIZ1	chr1:197743884-197745302	K562	blood:	n/a	n/a
49	EP300	chr1:197744351-197745120	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr1:197743683-197745774	Hela-S3	cervix:	n/a	chr1:197745220-197745230

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197744558..197746158-chr1:197886522..197888177,2	MCF-7	breast:
2	chr1:197744364..197744977-chr5:81267510..81268258,2	HCT-116	colon:
3	chr1:197715463..197718268-chr1:197744051..197746586,3	K562	blood:
4	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
5	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:

No data

Variant related genes	Relation type
DENND1B	TF binding region
ENSG00000233040	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000143355	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	chr1:197742400-197744800	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	chr1:197742600-197744800	Active TSS	K562	blood
5	chr1:197742600-197744800	Active TSS	NHLF	lung
6	chr1:197742600-197745000	Active TSS	Aorta	Aorta
7	chr1:197742800-197744800	Active TSS	Duodenum Mucosa	Duodenum
8	chr1:197742800-197744800	Active TSS	Fetal Stomach	stomach
9	chr1:197742800-197744800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:197743000-197744800	Active TSS	Fetal Muscle Leg	muscle
11	chr1:197743000-197744800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr1:197743000-197745000	Active TSS	Brain Angular Gyrus	brain
13	chr1:197743000-197745000	Active TSS	Fetal Intestine Small	intestine
14	chr1:197743000-197745000	Active TSS	HSMMtube	muscle
15	chr1:197743000-197745200	Active TSS	Fetal Lung	lung
16	chr1:197743200-197744800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:197743200-197744800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:197743200-197744800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:197743200-197745000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:197743200-197745200	Active TSS	Right Ventricle	heart
21	chr1:197743400-197744800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:197743400-197744800	Active TSS	Primary monocytes fromperipheralblood	blood
23	chr1:197743400-197744800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:197743400-197744800	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:197743400-197744800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:197743400-197744800	Active TSS	A549	lung
27	chr1:197743400-197744800	Active TSS	Hela-S3	cervix
28	chr1:197743400-197744800	Active TSS	HepG2	liver
29	chr1:197743400-197744800	Active TSS	NHDF-Ad	bronchial
30	chr1:197743400-197745000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:197743400-197745000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:197743400-197745000	Active TSS	Fetal Intestine Large	intestine
33	chr1:197743400-197745000	Active TSS	Psoas Muscle	Psoas
34	chr1:197743400-197745200	Active TSS	Fetal Brain Female	brain
35	chr1:197743400-197745400	Active TSS	Brain Germinal Matrix	brain
36	chr1:197743600-197744800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr1:197743600-197744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:197743600-197744800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:197743600-197744800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:197743600-197744800	Active TSS	Placenta	Placenta
41	chr1:197743600-197744800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:197743600-197744800	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr1:197743600-197744800	Active TSS	Stomach Mucosa	stomach
44	chr1:197743600-197745000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:197743600-197745000	Active TSS	Colon Smooth Muscle	Colon
46	chr1:197743600-197745000	Active TSS	Ovary	ovary
47	chr1:197743600-197745000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr1:197743600-197745200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr1:197743600-197745200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:197743600-197745400	Active TSS	Brain Cingulate Gyrus	brain

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