Variant report

Variant	rs529965948
Chromosome Location	chr1:57004022-57004023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:57003171-57004244	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:56998973-57004163	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:57004017-57004067	Hela-S3	cervix:	n/a
2	chr1:57004017-57004067	SK-N-MC	brain:	n/a
3	chr1:57004017-57004067	HRE	kidney:	n/a
4	chr1:57004017-57004067	SK-N-SH	brain:	n/a
5	chr1:57004017-57004067	H1-hESC	embryonic stem cell:	embryo
6	chr1:57004017-57004067	SK-N-SH_RA	brain:	n/a
7	chr1:57004017-57004067	ovcar-3	ovarian:	n/a
8	chr1:57004017-57004067	ECC-1	luminal epithelium:	n/a
9	chr1:57004017-57004067	A549	lung:	n/a
10	chr1:57004017-57004067	NHBE	bronchial:	n/a
11	chr1:57004017-57004067	AG04449	skin:	fetal
12	chr1:57004017-57004067	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:57004017-57004067	GM12878	blood:	n/a
14	chr1:57004017-57004067	HEK293	kidney:	embryo
15	chr1:57004017-57004067	AG09319	gingival:	n/a
16	chr1:57004017-57004067	AG09309	skin:	n/a
17	chr1:57004017-57004067	HCPEpiC	choroid plexus:	n/a
18	chr1:57004017-57004067	HCF	heart:	n/a
19	chr1:57004017-57004067	HRPEpiC	eye:	n/a
20	chr1:57004017-57004067	SKMC	muscle:	n/a
21	chr1:57004017-57004067	GM12892	blood:	n/a
22	chr1:57004017-57004067	NH-A	brain:	n/a
23	chr1:57004017-57004067	K562	blood:	n/a
24	chr1:57004017-57004067	GM06990	blood:	n/a
25	chr1:57004017-57004067	GM12891	blood:	n/a
26	chr1:57004017-57004067	RPTEC	kidney:	n/a
27	chr1:57004017-57004067	MCF-7	breast:	n/a
28	chr1:57004017-57004067	HCT-116	colon:	n/a
29	chr1:57004017-57004067	GM19239	blood:	n/a
30	chr1:57004017-57004067	HAEpiC	amniotic membrane:	n/a
31	chr1:57004017-57004067	T-47D	breast:	n/a
32	chr1:57004017-57004067	Jurkat	blood:	n/a
33	chr1:57004017-57004067	HRCEpiC	kidney:	n/a
34	chr1:57004017-57004067	SAEC	small airway:	n/a
35	chr1:57004017-57004067	NT2-D1	testis:	n/a
36	chr1:57004017-57004067	HCM	heart:	n/a
37	chr1:57004017-57004067	Hepatocyte	liver:	n/a
38	chr1:57004017-57004067	BE2_C	brain:	n/a
39	chr1:57004017-57004067	PFSK-1	brain:	n/a
40	chr1:57004017-57004067	HUVEC	blood vessel:	n/a
41	chr1:57004017-57004067	HL-60	blood:	n/a
42	chr1:57004017-57004067	Caco-2	colon:	n/a
43	chr1:57004017-57004067	PANC-1	pancreas:	n/a
44	chr1:57004017-57004067	BJ	skin:	n/a
45	chr1:57004017-57004067	U87	brain:	n/a
46	chr1:57004017-57004067	NHDF-neo	bronchial:	n/a
47	chr1:57004017-57004067	LNCaP	prostate:	n/a
48	chr1:57004017-57004067	HMEC	breast:	n/a
49	chr1:57004017-57004067	AoSMC	blood vessel:	n/a
50	chr1:57004017-57004067	NB4	blood:	n/a

No data

Variant related genes	Relation type
RPL21P23	TF binding region
RPL21P23	CpG island

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv945965	chr1:57003085-57005467	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
3	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
4	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:56993800-57004200	Weak transcription	NH-A	brain
6	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
7	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
8	chr1:56994200-57004400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr1:56995600-57004600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:56996600-57005200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:56997200-57004600	Genic enhancers	Placenta	Placenta
12	chr1:56997600-57004400	Genic enhancers	Fetal Muscle Leg	muscle
13	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
14	chr1:57000000-57004200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:57000200-57005000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:57000200-57008200	Weak transcription	Fetal Kidney	kidney
17	chr1:57000400-57011000	Weak transcription	Gastric	stomach
18	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:57000600-57005400	Weak transcription	Colonic Mucosa	Colon
20	chr1:57001000-57004200	Enhancers	Pancreas	Pancrea
21	chr1:57001200-57018800	Weak transcription	A549	lung
22	chr1:57001400-57004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
24	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:57002200-57004400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:57002200-57004400	Enhancers	Psoas Muscle	Psoas
27	chr1:57002400-57004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:57002400-57005200	Weak transcription	Aorta	Aorta
29	chr1:57002400-57008600	Enhancers	Brain Hippocampus Middle	brain
30	chr1:57002600-57004600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:57002600-57005200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:57002600-57005200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:57002600-57006600	Enhancers	Right Atrium	heart
34	chr1:57002600-57008600	Enhancers	Brain Anterior Caudate	brain
35	chr1:57002800-57004200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:57002800-57004200	Enhancers	Right Ventricle	heart
37	chr1:57002800-57004200	Enhancers	Dnd41	blood
38	chr1:57002800-57004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:57002800-57004400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:57002800-57004600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:57002800-57004800	Weak transcription	Fetal Heart	heart
42	chr1:57002800-57006400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:57002800-57006600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:57002800-57006800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:57002800-57006800	Enhancers	Fetal Intestine Small	intestine
46	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
48	chr1:57003000-57004200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:57003000-57004600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:57003000-57005000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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