Variant report

Variant	rs372285666
Chromosome Location	chr1:210406895-210406896
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	RXRA	chr1:210406681-210407562	SK-N-SH	brain:	n/a	n/a
2	EGR1	chr1:210406687-210407160	ECC-1	luminal epithelium:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
3	SIN3AK20	chr1:210406692-210407721	SK-N-SH	brain:	n/a	n/a
4	MAX	chr1:210406390-210407519	SK-N-SH	brain:	n/a	chr1:210406540-210406549
5	POLR2A	chr1:210406832-210406915	ProgFib	skin:	n/a	n/a
6	SMARCC1	chr1:210406586-210407990	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:210406865-210407551	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr1:210406455-210407697	SK-N-SH	brain:	n/a	chr1:210406540-210406549
9	TCF12	chr1:210406741-210407842	SK-N-SH	brain:	n/a	chr1:210407710-210407720
10	UBTF	chr1:210406885-210407354	K562	blood:	n/a	n/a
11	EP300	chr1:210406870-210407742	ECC-1	luminal epithelium:	n/a	chr1:210406943-210406959 chr1:210406946-210406955 chr1:210406944-210406960 chr1:210406951-210406960 chr1:210407457-210407467
12	POLR2A	chr1:210406881-210406923	MCF-7	breast:	n/a	n/a
13	EGR1	chr1:210406729-210407062	H1-hESC	embryonic stem cell:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
14	MAZ	chr1:210405793-210408090	IMR90	lung:	n/a	chr1:210406540-210406549
15	EGR1	chr1:210406590-210407390	HCT-116	colon:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406631-210406641 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
16	TCF12	chr1:210406815-210407525	ECC-1	luminal epithelium:	n/a	n/a
17	TEAD4	chr1:210406377-210407655	SK-N-SH	brain:	n/a	n/a
18	EGR1	chr1:210406838-210407002	GM12878	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
19	MAX	chr1:210406791-210407335	ECC-1	luminal epithelium:	n/a	n/a
20	MAZ	chr1:210406861-210407143	K562	blood:	n/a	n/a
21	EGR1	chr1:210406849-210406983	GM12878	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
22	EGR1	chr1:210406716-210407190	ECC-1	luminal epithelium:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
23	POLR2A	chr1:210405595-210408558	H1-neurons	neurons:	n/a	n/a
24	RCOR1	chr1:210406879-210407084	K562	blood:	n/a	n/a
25	EGR1	chr1:210406525-210407936	HCT-116	colon:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406569-210406579 chr1:210407621-210407636 chr1:210407621-210407635 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210407623-210407633 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406631-210406641 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210407623-210407632 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210407622-210407635 chr1:210406907-210406916 chr1:210407623-210407634 chr1:210407622-210407635 chr1:210407622-210407635 chr1:210406906-210406916 chr1:210407622-210407635 chr1:210407617-210407639 chr1:210406564-210406577
26	TEAD4	chr1:210406818-210407528	ECC-1	luminal epithelium:	n/a	n/a
27	HA-E2F1	chr1:210405555-210407854	MCF-7	breast:	n/a	chr1:210405557-210405566 chr1:210406562-210406577 chr1:210405978-210405988 chr1:210405975-210405985 chr1:210406950-210406960 chr1:210406620-210406632 chr1:210407579-210407589 chr1:210406572-210406581
28	NFIC	chr1:210406783-210407479	SK-N-SH	brain:	n/a	n/a
29	TCF7L2	chr1:210406552-210407801	HCT-116	colon:	n/a	chr1:210407431-210407441
30	POLR2A	chr1:210406873-210407667	HUVEC	blood vessel:	n/a	n/a
31	SIN3AK20	chr1:210406690-210408118	MCF-7	breast:	n/a	n/a
32	CTBP2	chr1:210405979-210407958	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F6	chr1:210406420-210407363	A549	lung:	n/a	chr1:210406562-210406577 chr1:210406950-210406960 chr1:210406620-210406632 chr1:210406572-210406581
34	POLR2A	chr1:210406832-210407767	HUVEC	blood vessel:	n/a	n/a
35	NFIC	chr1:210406783-210407872	SK-N-SH	brain:	n/a	n/a
36	TAF1	chr1:210406429-210407449	H1-neurons	neurons:	n/a	n/a
37	MAX	chr1:210406398-210407574	A549	lung:	n/a	chr1:210406540-210406549
38	MAX	chr1:210406319-210407751	A549	lung:	n/a	chr1:210406540-210406549
39	SMARCB1	chr1:210406546-210407922	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:210406833-210406950	MCF-7	breast:	n/a	n/a
41	REST	chr1:210405235-210408055	H1-neurons	neurons:	n/a	n/a
42	MAZ	chr1:210406622-210407733	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr1:210406202-210407163	K562	blood:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406569-210406579 chr1:210406332-210406342 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406631-210406641 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916 chr1:210406564-210406577
44	POLR2A	chr1:210406882-210407572	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr1:210405931-210407316	MCF-7	breast:	n/a	n/a
46	EGR1	chr1:210406756-210407144	H1-hESC	embryonic stem cell:	n/a	chr1:210406906-210406919 chr1:210406948-210406962 chr1:210406906-210406919 chr1:210406900-210406913 chr1:210406906-210406919 chr1:210406906-210406919 chr1:210406907-210406918 chr1:210406901-210406923 chr1:210406907-210406917 chr1:210406905-210406920 chr1:210406907-210406917 chr1:210406903-210406917 chr1:210406905-210406919 chr1:210406895-210406905 chr1:210406907-210406916 chr1:210406906-210406916
47	POLR2A	chr1:210405721-210407760	HUVEC	blood vessel:	n/a	n/a
48	BACH1	chr1:210405970-210407150	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3A	chr1:210406525-210408381	H1-hESC	embryonic stem cell:	n/a	chr1:210407705-210407714 chr1:210407487-210407496 chr1:210407512-210407523
50	MAX	chr1:210406784-210407807	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:210406850-210406900	MCF-7	breast:	n/a
2	chr1:210406850-210406900	IMR90	lung:	fetal
3	chr1:210406850-210406900	GM06990	blood:	n/a
4	chr1:210406850-210406900	PFSK-1	brain:	n/a
5	chr1:210406850-210406900	HCM	heart:	n/a
6	chr1:210406850-210406900	LNCaP	prostate:	n/a
7	chr1:210406850-210406900	U87	brain:	n/a
8	chr1:210406850-210406900	NB4	blood:	n/a
9	chr1:210406850-210406900	HIPEpiC	eye:	n/a
10	chr1:210406850-210406900	HepG2	liver:	n/a
11	chr1:210406850-210406900	HCPEpiC	choroid plexus:	n/a
12	chr1:210406850-210406900	Hepatocyte	liver:	n/a
13	chr1:210406850-210406900	HCT-116	colon:	n/a
14	chr1:210406850-210406900	HNPCEpiC	eye:	n/a
15	chr1:210406850-210406900	ECC-1	luminal epithelium:	n/a
16	chr1:210406850-210406900	HEEpiC	esophagus:	n/a
17	chr1:210406850-210406900	PANC-1	pancreas:	n/a
18	chr1:210406850-210406900	HCF	heart:	n/a
19	chr1:210406850-210406900	HRPEpiC	eye:	n/a
20	chr1:210406850-210406900	PrEC	prostate:	n/a
21	chr1:210406850-210406900	H1-hESC	embryonic stem cell:	embryo
22	chr1:210406850-210406900	AG04449	skin:	fetal
23	chr1:210406850-210406900	NHBE	bronchial:	n/a
24	chr1:210406850-210406900	K562	blood:	n/a
25	chr1:210406850-210406900	GM19239	blood:	n/a
26	chr1:210406850-210406900	T-47D	breast:	n/a
27	chr1:210406850-210406900	AG09319	gingival:	n/a
28	chr1:210406850-210406900	AoSMC	blood vessel:	n/a
29	chr1:210406850-210406900	ovcar-3	ovarian:	n/a
30	chr1:210406850-210406900	HMEC	breast:	n/a
31	chr1:210406850-210406900	Hela-S3	cervix:	n/a
32	chr1:210406850-210406900	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:210406850-210406900	HAEpiC	amniotic membrane:	n/a
34	chr1:210406850-210406900	ProgFib	skin:	n/a
35	chr1:210406850-210406900	GM12892	blood:	n/a
36	chr1:210406850-210406900	BJ	skin:	n/a
37	chr1:210406850-210406900	GM12891	blood:	n/a
38	chr1:210406850-210406900	Caco-2	colon:	n/a
39	chr1:210406850-210406900	SKMC	muscle:	n/a
40	chr1:210406850-210406900	HRCEpiC	kidney:	n/a
41	chr1:210406850-210406900	A549	lung:	n/a
42	chr1:210406850-210406900	NH-A	brain:	n/a
43	chr1:210406850-210406900	SK-N-SH	brain:	n/a
44	chr1:210406850-210406900	AG09309	skin:	n/a
45	chr1:210406850-210406900	RPTEC	kidney:	n/a
46	chr1:210406850-210406900	NT2-D1	testis:	n/a
47	chr1:210406850-210406900	BE2_C	brain:	n/a
48	chr1:210406850-210406900	NHDF-neo	bronchial:	n/a
49	chr1:210406850-210406900	AG04450	lung:	fetal
50	chr1:210406850-210406900	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210405800..210407964-chr1:210502205..210503882,2	MCF-7	breast:
2	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
3	chr1:210405867..210408909-chr1:210535692..210538632,3	MCF-7	breast:
4	chr1:210406407..210409749-chr1:210545963..210547821,3	MCF-7	breast:

Variant related genes	Relation type
SERTAD4-AS1	TF binding region
SERTAD4	TF binding region
SERTAD4	CpG island
SERTAD4-AS1	CpG island
ENSG00000200972	Chromatin interaction
ENSG00000054392	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv3422029	chr1:210404854-210407702	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3334541	chr1:210405229-210407377	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210405000-210407400	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:210405000-210407600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:210405200-210407600	Active TSS	NH-A	brain
4	chr1:210405400-210407600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:210405400-210407600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:210405400-210407600	Active TSS	Right Ventricle	heart
7	chr1:210405400-210407800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:210405400-210407800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:210405400-210407800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:210405400-210407800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:210405400-210407800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr1:210405400-210407800	Active TSS	Colon Smooth Muscle	Colon
13	chr1:210405400-210407800	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:210405400-210408000	Bivalent Enhancer	Fetal Brain Male	brain
15	chr1:210405400-210408000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:210405600-210407000	Active TSS	Colonic Mucosa	Colon
17	chr1:210405600-210407000	Bivalent Enhancer	Fetal Lung	lung
18	chr1:210405600-210407000	Active TSS	Right Atrium	heart
19	chr1:210405600-210407400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:210405600-210407400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:210405600-210407400	Active TSS	HSMM	muscle
22	chr1:210405600-210407600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr1:210405600-210407600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:210405600-210407600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:210405600-210407600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:210405600-210407600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:210405600-210407600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr1:210405600-210407600	Active TSS	Brain Cingulate Gyrus	brain
29	chr1:210405600-210407600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:210405600-210407600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr1:210405600-210407600	Active TSS	Left Ventricle	heart
32	chr1:210405600-210407600	Active TSS	Ovary	ovary
33	chr1:210405600-210407600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr1:210405600-210407600	Bivalent/Poised TSS	A549	lung
35	chr1:210405600-210407600	Active TSS	HSMMtube	muscle
36	chr1:210405600-210407600	Active TSS	NHLF	lung
37	chr1:210405600-210407800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:210405600-210407800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:210405600-210407800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:210405600-210407800	Active TSS	Aorta	Aorta
41	chr1:210405600-210407800	Active TSS	Brain Anterior Caudate	brain
42	chr1:210405600-210407800	Active TSS	Brain Substantia Nigra	brain
43	chr1:210405600-210407800	Active TSS	Placenta Amnion	Placenta Amnion
44	chr1:210405600-210407800	Active TSS	NHDF-Ad	bronchial
45	chr1:210405800-210407000	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr1:210405800-210407200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:210405800-210407400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:210405800-210407400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:210405800-210407400	Active TSS	Esophagus	oesophagus
50	chr1:210405800-210407400	Active TSS	NHEK	skin

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