Variant report

Variant	rs532807418
Chromosome Location	chr1:211432374-211432375
allele	G/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	YY1	chr1:211432142-211433090	H1-hESC	embryonic stem cell:	n/a	chr1:211432311-211432325
2	BRCA1	chr1:211431529-211432901	Hela-S3	cervix:	n/a	n/a
3	TEAD4	chr1:211431470-211433039	K562	blood:	n/a	n/a
4	SP1	chr1:211431619-211433120	HCT-116	colon:	n/a	chr1:211432561-211432575 chr1:211432556-211432570 chr1:211432543-211432552 chr1:211432547-211432559 chr1:211432562-211432571 chr1:211432549-211432558 chr1:211432548-211432562 chr1:211432547-211432559 chr1:211432885-211432894 chr1:211432548-211432558 chr1:211432544-211432553 chr1:211432543-211432557 chr1:211431792-211431804 chr1:211432543-211432552 chr1:211432548-211432557 chr1:211431793-211431807 chr1:211432886-211432899
5	PAX5	chr1:211432037-211432732	GM12878	blood:	n/a	n/a
6	EP300	chr1:211431486-211433010	GM12878	blood:	n/a	chr1:211431928-211431942 chr1:211431835-211431849 chr1:211431593-211431607 chr1:211432524-211432540 chr1:211432435-211432451
7	CTCF	chr1:211432340-211432490	HA-sp	spinal cord:	n/a	n/a
8	ELK1	chr1:211431906-211432904	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr1:211432340-211432490	HCM	heart:	n/a	n/a
10	POLR2A	chr1:211431656-211433335	GM15510	blood:	n/a	n/a
11	TEAD4	chr1:211431529-211432999	SK-N-SH	brain:	n/a	n/a
12	SIX5	chr1:211431554-211432407	A549	lung:	n/a	n/a
13	EGR1	chr1:211432261-211432499	GM12878	blood:	n/a	chr1:211432433-211432443
14	RELA	chr1:211431556-211432953	GM15510	blood:	n/a	chr1:211432536-211432545 chr1:211432536-211432545
15	TAF1	chr1:211431460-211433208	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:211432257-211432674	Spleen_OC	spleen:	n/a	chr1:211432327-211432340
17	ATF3	chr1:211432220-211432723	K562	blood:	n/a	n/a
18	RELA	chr1:211431544-211433052	GM12891	blood:	n/a	chr1:211432536-211432545 chr1:211432536-211432545
19	CTCF	chr1:211432360-211432510	BJ	skin:	n/a	n/a
20	TBL1XR1	chr1:211431587-211432919	K562	blood:	n/a	n/a
21	NANOG	chr1:211432111-211432607	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr1:211431635-211433046	GM12878	blood:	n/a	chr1:211432558-211432576
23	POLR2A	chr1:211431941-211433207	A549	lung:	n/a	n/a
24	ETS1	chr1:211431681-211432990	A549	lung:	n/a	chr1:211432025-211432042 chr1:211431731-211431738
25	STAT5A	chr1:211432252-211432606	GM12878	blood:	n/a	chr1:211432552-211432564 chr1:211432557-211432569 chr1:211432544-211432556
26	CTCF	chr1:211432360-211432510	BE2_C	brain:	n/a	n/a
27	TBP	chr1:211431539-211433145	K562	blood:	n/a	n/a
28	BHLHE40	chr1:211432163-211432519	HepG2	liver:	n/a	n/a
29	MAFK	chr1:211430859-211432505	K562	blood:	n/a	chr1:211431508-211431525
30	MAX	chr1:211431886-211433145	ECC-1	luminal epithelium:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
31	POLR2A	chr1:211431979-211433229	Gliobla	brain:	n/a	n/a
32	SIN3AK20	chr1:211432123-211432500	HepG2	liver:	n/a	n/a
33	CTCF	chr1:211432314-211432567	Medullo	brain:	n/a	chr1:211432327-211432340
34	ESR1	chr1:211432106-211432643	ECC-1	luminal epithelium:	n/a	chr1:211432396-211432411
35	JUN	chr1:211431665-211433033	K562	blood:	n/a	chr1:211432319-211432328 chr1:211432316-211432325
36	ETS1	chr1:211432064-211432537	A549	lung:	n/a	n/a
37	USF2	chr1:211432318-211432601	GM12878	blood:	n/a	n/a
38	RFX5	chr1:211432364-211432794	HepG2	liver:	n/a	n/a
39	TCF12	chr1:211432196-211432746	GM12878	blood:	n/a	n/a
40	UBTF	chr1:211431414-211434505	K562	blood:	n/a	n/a
41	TAF1	chr1:211432138-211432510	SK-N-SH	brain:	n/a	n/a
42	ZNF384	chr1:211432356-211432536	GM12878	blood:	n/a	n/a
43	THAP1	chr1:211432280-211432484	K562	blood:	n/a	n/a
44	CTCF	chr1:211432360-211432510	HCPEpiC	choroid plexus:	n/a	n/a
45	MAX	chr1:211431551-211433316	K562	blood:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
46	CTCF	chr1:211432373-211432518	LNCaP	prostate:	n/a	n/a
47	POLR2A	chr1:211431331-211433272	HUVEC	blood vessel:	n/a	n/a
48	SRF	chr1:211432219-211432529	GM12878	blood:	n/a	chr1:211432314-211432324
49	POLR2A	chr1:211431514-211432517	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr1:211431417-211433266	A549	lung:	n/a	chr1:211432409-211432419 chr1:211432314-211432324

No.	Distal block	Cell Line	Cell type
1	chr1:210543442..210549646-chr1:211430130..211435518,10	MCF-7	breast:
2	chr1:211431689..211435313-chr1:211451941..211455577,4	K562	blood:
3	chr1:211431871..211432822-chr12:57984812..57985355,2	Hela-S3	cervix:
4	chr1:211432252..211434880-chr1:211475465..211477456,2	K562	blood:
5	chr1:211432264..211433217-chr9:130497359..130497900,2	Hela-S3	cervix:
6	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
7	chr1:211432150..211433116-chr6:27114889..27115470,2	Hela-S3	cervix:
8	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:
9	chr1:211431812..211432720-chr3:20227589..20228353,2	Hela-S3	cervix:
10	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
11	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
12	chr1:211432273..211433148-chr11:62608701..62609653,2	NB4	blood:
13	chr1:210545931..210548726-chr1:211432289..211435093,3	K562	blood:
14	chr1:211431809..211433608-chr1:212207599..212209157,2	K562	blood:

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000117625	Chromatin interaction
ENSG00000129810	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000160404	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000166908	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343270	chr1:211431354-211434202	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv3352231	chr1:211431654-211434427	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3373410	chr1:211432129-211434077	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:211430600-211434600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:211430600-211434600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:211430800-211432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:211430800-211434600	Active TSS	Aorta	Aorta
5	chr1:211431000-211434400	Active TSS	Brain Anterior Caudate	brain
6	chr1:211431000-211434400	Active TSS	NHLF	lung
7	chr1:211431000-211434800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:211431000-211434800	Active TSS	Fetal Intestine Large	intestine
9	chr1:211431200-211432400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:211431200-211432400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:211431200-211434200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:211431200-211434200	Active TSS	Fetal Muscle Trunk	muscle
13	chr1:211431200-211434200	Active TSS	Fetal Muscle Leg	muscle
14	chr1:211431200-211434400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:211431200-211434400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:211431200-211434400	Active TSS	Placenta Amnion	Placenta Amnion
17	chr1:211431200-211434600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:211431200-211434600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:211431200-211434600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:211431200-211434600	Active TSS	Fetal Stomach	stomach
21	chr1:211431200-211434600	Active TSS	K562	blood
22	chr1:211431200-211434800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:211431200-211434800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:211431200-211434800	Active TSS	Fetal Intestine Small	intestine
25	chr1:211431200-211435000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:211431400-211432400	Flanking Active TSS	HUVEC	blood vessel
27	chr1:211431400-211433800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:211431400-211434400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:211431400-211434400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:211431400-211434400	Active TSS	Colonic Mucosa	Colon
31	chr1:211431400-211434400	Active TSS	Colon Smooth Muscle	Colon
32	chr1:211431400-211434400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:211431400-211434400	Active TSS	Fetal Heart	heart
34	chr1:211431400-211434400	Active TSS	Fetal Kidney	kidney
35	chr1:211431400-211434400	Active TSS	Fetal Lung	lung
36	chr1:211431400-211434400	Active TSS	Lung	lung
37	chr1:211431400-211434600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:211431400-211434600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:211431400-211434600	Active TSS	Ovary	ovary
40	chr1:211431400-211434600	Active TSS	Pancreas	Pancrea
41	chr1:211431400-211434600	Active TSS	Rectal Smooth Muscle	rectum
42	chr1:211431400-211434600	Active TSS	Thymus	Thymus
43	chr1:211431400-211434600	Active TSS	HSMMtube	muscle
44	chr1:211431400-211434800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:211431400-211434800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:211431400-211434800	Active TSS	Left Ventricle	heart
47	chr1:211431400-211434800	Active TSS	Psoas Muscle	Psoas
48	chr1:211431400-211434800	Active TSS	Right Ventricle	heart
49	chr1:211431400-211435000	Active TSS	NHDF-Ad	bronchial
50	chr1:211431600-211432400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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