Variant report

Variant	rs535236736
Chromosome Location	chr1:211432069-211432070
allele	C/G
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	BRCA1	chr1:211431529-211432901	Hela-S3	cervix:	n/a	n/a
2	SIN3AK20	chr1:211431590-211432109	K562	blood:	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	ELK1	chr1:211431906-211432904	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:211431656-211433335	GM15510	blood:	n/a	n/a
9	TEAD4	chr1:211431529-211432999	SK-N-SH	brain:	n/a	n/a
10	SIX5	chr1:211431554-211432407	A549	lung:	n/a	n/a
11	RELA	chr1:211431556-211432953	GM15510	blood:	n/a	chr1:211432536-211432545 chr1:211432536-211432545
12	TAF1	chr1:211431460-211433208	H1-hESC	embryonic stem cell:	n/a	n/a
13	RELA	chr1:211431544-211433052	GM12891	blood:	n/a	chr1:211432536-211432545 chr1:211432536-211432545
14	TBL1XR1	chr1:211431587-211432919	K562	blood:	n/a	n/a
15	ZNF143	chr1:211431635-211433046	GM12878	blood:	n/a	chr1:211432558-211432576
16	POLR2A	chr1:211431941-211433207	A549	lung:	n/a	n/a
17	ETS1	chr1:211431681-211432990	A549	lung:	n/a	chr1:211432025-211432042 chr1:211431731-211431738
18	TBP	chr1:211431539-211433145	K562	blood:	n/a	n/a
19	MAFK	chr1:211430859-211432505	K562	blood:	n/a	chr1:211431508-211431525
20	MAX	chr1:211431886-211433145	ECC-1	luminal epithelium:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
21	POLR2A	chr1:211431979-211433229	Gliobla	brain:	n/a	n/a
22	JUN	chr1:211431665-211433033	K562	blood:	n/a	chr1:211432319-211432328 chr1:211432316-211432325
23	ETS1	chr1:211432064-211432537	A549	lung:	n/a	n/a
24	UBTF	chr1:211431414-211434505	K562	blood:	n/a	n/a
25	MAX	chr1:211431551-211433316	K562	blood:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
26	POLR2A	chr1:211431331-211433272	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr1:211432020-211432170	HMF	breast:	n/a	n/a
28	POLR2A	chr1:211431514-211432517	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr1:211431417-211433266	A549	lung:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
30	CREB1	chr1:211431466-211432975	K562	blood:	n/a	n/a
31	POLR2A	chr1:211431511-211432536	GM12891	blood:	n/a	n/a
32	MXI1	chr1:211431485-211432559	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:211431419-211433532	H1-neurons	neurons:	n/a	n/a
34	TCF12	chr1:211431361-211433146	A549	lung:	n/a	chr1:211431625-211431633
35	MAX	chr1:211431588-211433126	HepG2	liver:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
36	MAZ	chr1:211431464-211434733	K562	blood:	n/a	chr1:211432409-211432419 chr1:211433819-211433829 chr1:211432314-211432324
37	MYC	chr1:211431167-211432603	MCF10A-Er-Src	breast:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
38	CTCF	chr1:211432000-211432150	GM12878	blood:	n/a	n/a
39	MAX	chr1:211431566-211433295	HepG2	liver:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
40	TBP	chr1:211431229-211432844	Hela-S3	cervix:	n/a	n/a
41	GATA3	chr1:211431957-211432976	A549	lung:	n/a	n/a
42	POLR2A	chr1:211431533-211433398	K562	blood:	n/a	n/a
43	HA-E2F1	chr1:211431874-211433089	MCF-7	breast:	n/a	chr1:211432325-211432334 chr1:211432426-211432438 chr1:211432426-211432437
44	ZMIZ1	chr1:211431466-211433049	K562	blood:	n/a	n/a
45	POLR2A	chr1:211431965-211433081	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr1:211432048-211432524	A549	lung:	n/a	n/a
47	TAF1	chr1:211431612-211433419	ECC-1	luminal epithelium:	n/a	n/a
48	E2F6	chr1:211431628-211432755	A549	lung:	n/a	chr1:211432425-211432436 chr1:211432325-211432334 chr1:211432426-211432438
49	YY1	chr1:211432022-211433216	K562	blood:	n/a	chr1:211432311-211432325
50	CREB1	chr1:211431957-211432874	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210543442..210549646-chr1:211430130..211435518,10	MCF-7	breast:
2	chr1:211431380..211432214-chr14:75745176..75745718,2	Hela-S3	cervix:
3	chr1:211431689..211435313-chr1:211451941..211455577,4	K562	blood:
4	chr1:211431871..211432822-chr12:57984812..57985355,2	Hela-S3	cervix:
5	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
6	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:
7	chr1:211431812..211432720-chr3:20227589..20228353,2	Hela-S3	cervix:
8	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
9	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
10	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
11	chr1:211431809..211433608-chr1:212207599..212209157,2	K562	blood:
12	chr1:211431774..211432328-chr15:90895431..90896017,2	Hela-S3	cervix:

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000166908	Chromatin interaction
ENSG00000129810	Chromatin interaction
ENSG00000196391	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000082512	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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211430600-211432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:211430600-211432200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr1:211430600-211434600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:211430600-211434600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:211430800-211432200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:211430800-211432200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:211430800-211432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:211430800-211434600	Active TSS	Aorta	Aorta
9	chr1:211431000-211434400	Active TSS	Brain Anterior Caudate	brain
10	chr1:211431000-211434400	Active TSS	NHLF	lung
11	chr1:211431000-211434800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:211431000-211434800	Active TSS	Fetal Intestine Large	intestine
13	chr1:211431200-211432200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:211431200-211432200	Flanking Active TSS	Osteobl	bone
15	chr1:211431200-211432400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr1:211431200-211432400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211431200-211434200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:211431200-211434200	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:211431200-211434200	Active TSS	Fetal Muscle Leg	muscle
20	chr1:211431200-211434400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:211431200-211434400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:211431200-211434400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr1:211431200-211434600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211431200-211434600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:211431200-211434600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:211431200-211434600	Active TSS	Fetal Stomach	stomach
27	chr1:211431200-211434600	Active TSS	K562	blood
28	chr1:211431200-211434800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:211431200-211434800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:211431200-211434800	Active TSS	Fetal Intestine Small	intestine
31	chr1:211431200-211435000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:211431400-211432200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr1:211431400-211432200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:211431400-211432200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr1:211431400-211432200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:211431400-211432400	Flanking Active TSS	HUVEC	blood vessel
37	chr1:211431400-211433800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:211431400-211434400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:211431400-211434400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:211431400-211434400	Active TSS	Colonic Mucosa	Colon
41	chr1:211431400-211434400	Active TSS	Colon Smooth Muscle	Colon
42	chr1:211431400-211434400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:211431400-211434400	Active TSS	Fetal Heart	heart
44	chr1:211431400-211434400	Active TSS	Fetal Kidney	kidney
45	chr1:211431400-211434400	Active TSS	Fetal Lung	lung
46	chr1:211431400-211434400	Active TSS	Lung	lung
47	chr1:211431400-211434600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:211431400-211434600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:211431400-211434600	Active TSS	Ovary	ovary
50	chr1:211431400-211434600	Active TSS	Pancreas	Pancrea

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