Variant report

Variant	rs547199971
Chromosome Location	chr1:212004040-212004041
allele	A/C
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	CTCF	chr1:212004040-212004190	HFF-Myc	foreskin:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
2	POLR2A	chr1:212003593-212004319	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:212004040-212004190	HMEC	breast:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
4	SIN3AK20	chr1:212003299-212004417	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr1:212003505-212004299	K562	blood:	n/a	n/a
6	POLR2A	chr1:212003533-212004449	GM12878	blood:	n/a	n/a
7	CHD1	chr1:212004037-212004517	GM12878	blood:	n/a	n/a
8	CTCF	chr1:212004009-212004331	A549	lung:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
9	POLR2A	chr1:212003652-212004280	K562	blood:	n/a	n/a
10	MAX	chr1:212003414-212004415	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:212003245-212004508	GM12878	blood:	n/a	n/a
12	MAZ	chr1:212003284-212004530	K562	blood:	n/a	chr1:212003407-212003416
13	ELF1	chr1:212003301-212004388	GM12878	blood:	n/a	chr1:212004187-212004199 chr1:212004185-212004194
14	TAF1	chr1:212003492-212004509	ECC-1	luminal epithelium:	n/a	n/a
15	YY1	chr1:212003247-212004332	GM12878	blood:	n/a	chr1:212004185-212004196 chr1:212004185-212004194 chr1:212004189-212004203 chr1:212004186-212004200 chr1:212003437-212003451
16	RFX5	chr1:212003665-212004398	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:212004036-212004467	Fibrobl	skin:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
18	ZNF143	chr1:212004022-212004358	Hela-S3	cervix:	n/a	n/a
19	EBF1	chr1:212003788-212005299	GM12878	blood:	n/a	chr1:212005052-212005063 chr1:212005053-212005062 chr1:212005051-212005064 chr1:212005053-212005063 chr1:212005052-212005062
20	YY1	chr1:212003814-212004385	H1-hESC	embryonic stem cell:	n/a	chr1:212004185-212004196 chr1:212004185-212004194 chr1:212004189-212004203 chr1:212004186-212004200
21	POLR2A	chr1:212003526-212004405	Hela-S3	cervix:	n/a	n/a
22	ZBTB7A	chr1:212003992-212004466	ECC-1	luminal epithelium:	n/a	chr1:212004167-212004176
23	POLR2A	chr1:212003349-212004460	GM12892	blood:	n/a	n/a
24	SPI1	chr1:212003992-212004371	HL-60	blood:	n/a	n/a
25	CTCF	chr1:212003957-212004333	HepG2	liver:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
26	HEY1	chr1:212003864-212004215	K562	blood:	n/a	chr1:212003889-212003904 chr1:212004184-212004199
27	MAZ	chr1:212003891-212004539	HepG2	liver:	n/a	n/a
28	RAD21	chr1:212002254-212004585	SK-N-SH	brain:	n/a	chr1:212003385-212003394
29	SIN3AK20	chr1:212004012-212004364	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr1:212003653-212004451	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr1:212003992-212004173	MCF-7	breast:	n/a	n/a
32	YY1	chr1:212003820-212004297	A549	lung:	n/a	chr1:212004185-212004196 chr1:212004185-212004194 chr1:212004189-212004203 chr1:212004186-212004200
33	YY1	chr1:212004013-212004220	HCT-116	colon:	n/a	chr1:212004185-212004196 chr1:212004185-212004194 chr1:212004189-212004203 chr1:212004186-212004200
34	CTCF	chr1:212003974-212004519	K562	blood:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
35	POLR2A	chr1:212003269-212004427	K562	blood:	n/a	n/a
36	CTCF	chr1:212003986-212004447	MCF-7	breast:	n/a	chr1:212004161-212004182 chr1:212004167-212004183
37	RUNX3	chr1:212003811-212004551	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr1:212003973-212004304	K562	blood:	n/a	n/a
39	POLR2A	chr1:212003934-212004132	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:212003376-212004421	GM18951	blood:	n/a	n/a
41	BHLHE40	chr1:212004001-212004250	GM12878	blood:	n/a	chr1:212004184-212004200 chr1:212004190-212004206
42	POLR2A	chr1:212003500-212004376	GM18526	blood:	n/a	n/a
43	POLR2A	chr1:212003386-212004368	MCF-7	breast:	n/a	n/a
44	YY1	chr1:212003317-212004266	K562	blood:	n/a	chr1:212004185-212004196 chr1:212004185-212004194 chr1:212004189-212004203 chr1:212004186-212004200 chr1:212003437-212003451
45	TEAD4	chr1:212003953-212004534	K562	blood:	n/a	n/a
46	PAX5	chr1:212003483-212004321	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:212003844-212004186	HUVEC	blood vessel:	n/a	n/a
48	BCLAF1	chr1:212003820-212004640	GM12878	blood:	n/a	chr1:212004187-212004200 chr1:212004114-212004123 chr1:212004148-212004157 chr1:212004191-212004204 chr1:212004187-212004196 chr1:212004184-212004193 chr1:212004165-212004173
49	RAD21	chr1:212003922-212004314	K562	blood:	n/a	n/a
50	JUND	chr1:212003481-212004363	A549	lung:	n/a	chr1:212004222-212004231 chr1:212003732-212003741

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:

Variant related genes	Relation type
ENSG00000229258	TF binding region
LPGAT1	TF binding region
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3325021	chr1:212002754-212005502	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211999400-212004400	Active TSS	Fetal Intestine Small	intestine
2	chr1:212000200-212004600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:212000800-212004400	Active TSS	Brain Hippocampus Middle	brain
4	chr1:212001200-212004600	Active TSS	Brain Cingulate Gyrus	brain
5	chr1:212001200-212004800	Active TSS	Brain Angular Gyrus	brain
6	chr1:212001600-212004400	Active TSS	Brain Substantia Nigra	brain
7	chr1:212001600-212004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:212002000-212004600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:212002000-212004800	Active TSS	Right Atrium	heart
10	chr1:212002400-212004200	Active TSS	Thymus	Thymus
11	chr1:212002400-212004400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:212002400-212004400	Active TSS	Fetal Kidney	kidney
13	chr1:212002400-212004600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:212002400-212004600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:212002400-212004600	Active TSS	Aorta	Aorta
16	chr1:212002400-212004600	Active TSS	Right Ventricle	heart
17	chr1:212002400-212004800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:212002400-212004800	Active TSS	HSMM	muscle
19	chr1:212002600-212004400	Active TSS	Liver	Liver
20	chr1:212002600-212004400	Active TSS	Fetal Intestine Large	intestine
21	chr1:212002600-212004400	Active TSS	A549	lung
22	chr1:212002600-212004600	Active TSS	Ovary	ovary
23	chr1:212002600-212004600	Active TSS	Pancreas	Pancrea
24	chr1:212002600-212004600	Active TSS	Psoas Muscle	Psoas
25	chr1:212002600-212004600	Active TSS	NHLF	lung
26	chr1:212002600-212004800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:212002600-212004800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:212002600-212004800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:212002600-212004800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:212002600-212004800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:212002600-212004800	Active TSS	Brain Anterior Caudate	brain
32	chr1:212002600-212004800	Active TSS	Colon Smooth Muscle	Colon
33	chr1:212002600-212004800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:212002600-212004800	Active TSS	Fetal Brain Female	brain
35	chr1:212002800-212004200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:212002800-212004400	Active TSS	Small Intestine	intestine
37	chr1:212002800-212004400	Active TSS	Stomach Mucosa	stomach
38	chr1:212002800-212004400	Active TSS	HepG2	liver
39	chr1:212002800-212004600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:212002800-212004600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:212002800-212004600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:212002800-212004600	Active TSS	Fetal Lung	lung
43	chr1:212003000-212004200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:212003000-212004400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:212003000-212004400	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:212003000-212004400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:212003000-212004400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:212003000-212004400	Active TSS	Spleen	Spleen
49	chr1:212003000-212004600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:212003000-212004600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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