Variant report

Variant	rs531006968
Chromosome Location	chr1:211431690-211431691
allele	A/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	EP300	chr1:211431486-211433010	GM12878	blood:	n/a	chr1:211431928-211431942 chr1:211431835-211431849 chr1:211431593-211431607 chr1:211432524-211432540 chr1:211432435-211432451
6	POLR2A	chr1:211431656-211433335	GM15510	blood:	n/a	n/a
7	TEAD4	chr1:211431529-211432999	SK-N-SH	brain:	n/a	n/a
8	SIX5	chr1:211431554-211432407	A549	lung:	n/a	n/a
9	RELA	chr1:211431556-211432953	GM15510	blood:	n/a	chr1:211432536-211432545 chr1:211432536-211432545
10	TAF1	chr1:211431460-211433208	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr1:211431561-211431983	Hela-S3	cervix:	n/a	n/a
12	RELA	chr1:211431544-211433052	GM12891	blood:	n/a	chr1:211432536-211432545 chr1:211432536-211432545
13	TBL1XR1	chr1:211431587-211432919	K562	blood:	n/a	n/a
14	CTCF	chr1:211431660-211431810	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr1:211431680-211431830	HA-sp	spinal cord:	n/a	n/a
16	POLR2A	chr1:211431601-211431980	HepG2	liver:	n/a	n/a
17	ZNF143	chr1:211431635-211433046	GM12878	blood:	n/a	chr1:211432558-211432576
18	ETS1	chr1:211431681-211432990	A549	lung:	n/a	chr1:211432025-211432042 chr1:211431731-211431738
19	TBP	chr1:211431539-211433145	K562	blood:	n/a	n/a
20	MAFK	chr1:211430859-211432505	K562	blood:	n/a	chr1:211431508-211431525
21	CTCF	chr1:211431680-211431830	GM12878	blood:	n/a	n/a
22	JUN	chr1:211431665-211433033	K562	blood:	n/a	chr1:211432319-211432328 chr1:211432316-211432325
23	UBTF	chr1:211431414-211434505	K562	blood:	n/a	n/a
24	CTCF	chr1:211431672-211431993	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	POLR2A	chr1:211431514-211432517	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:211431417-211433266	A549	lung:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
29	CREB1	chr1:211431466-211432975	K562	blood:	n/a	n/a
30	POLR2A	chr1:211431511-211432536	GM12891	blood:	n/a	n/a
31	MXI1	chr1:211431485-211432559	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:211431419-211433532	H1-neurons	neurons:	n/a	n/a
33	PAX5	chr1:211431678-211431919	GM12891	blood:	n/a	chr1:211431840-211431849
34	TAF1	chr1:211431624-211431950	SK-N-SH	brain:	n/a	n/a
35	TCF12	chr1:211431361-211433146	A549	lung:	n/a	chr1:211431625-211431633
36	MAX	chr1:211431588-211433126	HepG2	liver:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
37	MAZ	chr1:211431464-211434733	K562	blood:	n/a	chr1:211432409-211432419 chr1:211433819-211433829 chr1:211432314-211432324
38	MYC	chr1:211431167-211432603	MCF10A-Er-Src	breast:	n/a	chr1:211432409-211432419 chr1:211432314-211432324
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	POLR2A	chr1:211431533-211433398	K562	blood:	n/a	n/a
42	ZMIZ1	chr1:211431466-211433049	K562	blood:	n/a	n/a
43	TAF1	chr1:211431612-211433419	ECC-1	luminal epithelium:	n/a	n/a
44	E2F6	chr1:211431628-211432755	A549	lung:	n/a	chr1:211432425-211432436 chr1:211432325-211432334 chr1:211432426-211432438
45	POLR2A	chr1:211431536-211434534	NB4	blood:	n/a	n/a
46	POLR2A	chr1:211431386-211432568	U87	brain:	n/a	n/a
47	TEAD4	chr1:211431430-211432138	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:211431412-211432530	GM12878	blood:	n/a	n/a
49	MTA3	chr1:211431389-211432532	GM12878	blood:	n/a	n/a
50	STAT5A	chr1:211431492-211432700	K562	blood:	n/a	chr1:211432552-211432564 chr1:211432557-211432569 chr1:211432544-211432556

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	chr1:210545161..210548943-chr1:211431162..211434734,10	MCF-7	breast:
5	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:
6	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
7	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
8	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-2	chr1:211431307-211431917	NONHSAT009281

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000170345	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000170385	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211430600-211431800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:211430600-211432200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:211430600-211432200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr1:211430600-211434600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:211430600-211434600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:211430800-211431800	Flanking Active TSS	NH-A	brain
7	chr1:211430800-211432000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:211430800-211432000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:211430800-211432000	Bivalent/Poised TSS	HepG2	liver
10	chr1:211430800-211432200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:211430800-211432200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:211430800-211432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:211430800-211434600	Active TSS	Aorta	Aorta
14	chr1:211431000-211431800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:211431000-211432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:211431000-211432000	Active TSS	Brain Germinal Matrix	brain
17	chr1:211431000-211434400	Active TSS	Brain Anterior Caudate	brain
18	chr1:211431000-211434400	Active TSS	NHLF	lung
19	chr1:211431000-211434800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:211431000-211434800	Active TSS	Fetal Intestine Large	intestine
21	chr1:211431200-211431800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:211431200-211431800	Flanking Active TSS	Liver	Liver
23	chr1:211431200-211431800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr1:211431200-211431800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:211431200-211431800	Active TSS	Right Atrium	heart
26	chr1:211431200-211431800	Flanking Active TSS	Dnd41	blood
27	chr1:211431200-211431800	Flanking Active TSS	GM12878-XiMat	blood
28	chr1:211431200-211432000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:211431200-211432200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:211431200-211432200	Flanking Active TSS	Osteobl	bone
31	chr1:211431200-211432400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:211431200-211432400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:211431200-211434200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:211431200-211434200	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:211431200-211434200	Active TSS	Fetal Muscle Leg	muscle
36	chr1:211431200-211434400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:211431200-211434400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:211431200-211434400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:211431200-211434600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:211431200-211434600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:211431200-211434600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:211431200-211434600	Active TSS	Fetal Stomach	stomach
43	chr1:211431200-211434600	Active TSS	K562	blood
44	chr1:211431200-211434800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:211431200-211434800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:211431200-211434800	Active TSS	Fetal Intestine Small	intestine
47	chr1:211431200-211435000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:211431400-211431800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr1:211431400-211431800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr1:211431400-211431800	Flanking Active TSS	Primary T cells from cord blood	blood

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