Variant report

Variant	rs528964378
Chromosome Location	chr1:62207761-62207762
allele	A/C
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	POLR2A	chr1:62207659-62208330	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr1:62207701-62208376	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:62207653-62209116	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:62207709-62208023	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:62207758-62207897	ProgFib	skin:	n/a	n/a
6	ESR1	chr1:62207753-62208276	T-47D	breast:	n/a	n/a
7	POLR2A	chr1:62207698-62209183	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:62207121-62209260	Hela-S3	cervix:	n/a	n/a
9	SIN3AK20	chr1:62207525-62208538	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:62207185-62209561	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA3	chr1:62207580-62208110	MCF-7	breast:	n/a	chr1:62207735-62207745
12	REST	chr1:62207435-62208882	H1-neurons	neurons:	n/a	chr1:62208295-62208308
13	JUND	chr1:62207668-62208368	H1-hESC	embryonic stem cell:	n/a	chr1:62208351-62208360 chr1:62208355-62208364
14	CEBPB	chr1:62207476-62207837	MCF-7	breast:	n/a	chr1:62207579-62207592 chr1:62207579-62207592 chr1:62207581-62207592
15	TCF7L2	chr1:62207613-62208804	HCT-116	colon:	n/a	chr1:62207808-62207822
16	RCOR1	chr1:62207479-62208309	Hela-S3	cervix:	n/a	n/a
17	SIN3AK20	chr1:62207705-62208955	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr1:62207736-62208671	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:62207733-62208921	GM19193	blood:	n/a	n/a
20	ZEB1	chr1:62207712-62208619	GM12878	blood:	n/a	chr1:62208160-62208169 chr1:62208121-62208130 chr1:62208122-62208129 chr1:62207978-62207989
21	YY1	chr1:62207722-62208340	HCT-116	colon:	n/a	chr1:62207922-62207931
22	ZNF263	chr1:62207363-62209211	HEK293-T-REx	kidney:	n/a	n/a
23	MAX	chr1:62207620-62208818	ECC-1	luminal epithelium:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207695-62207704
24	MAX	chr1:62207415-62209080	Hela-S3	cervix:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207582-62207591 chr1:62207695-62207704
25	POLR2A	chr1:62207745-62208919	GM18951	blood:	n/a	n/a
26	POLR2A	chr1:62207388-62209264	Hela-S3	cervix:	n/a	n/a
27	CHD1	chr1:62207554-62207892	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr1:62207639-62209010	HepG2	liver:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207695-62207704
29	GATA3	chr1:62207684-62208307	T-47D	breast:	n/a	chr1:62207735-62207745
30	YY1	chr1:62207716-62208322	ECC-1	luminal epithelium:	n/a	chr1:62207922-62207931
31	POLR2A	chr1:62207718-62209059	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:62207754-62208027	HepG2	liver:	n/a	n/a
33	HA-E2F1	chr1:62207586-62209165	MCF-7	breast:	n/a	chr1:62208350-62208359 chr1:62208295-62208305 chr1:62208462-62208471 chr1:62208795-62208805 chr1:62207922-62207931 chr1:62208334-62208344
34	NFIC	chr1:62207691-62207933	HepG2	liver:	n/a	n/a
35	ZKSCAN1	chr1:62207661-62207871	Hela-S3	cervix:	n/a	n/a
36	ELF1	chr1:62207703-62208456	GM12878	blood:	n/a	chr1:62208394-62208403
37	TEAD4	chr1:62207737-62208189	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:62207411-62208803	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr1:62207713-62208051	HepG2	liver:	n/a	n/a
40	MYC	chr1:62207672-62207906	H1-hESC	embryonic stem cell:	n/a	chr1:62207695-62207704
41	HEY1	chr1:62207733-62208828	HepG2	liver:	n/a	chr1:62208466-62208481 chr1:62208340-62208355
42	TEAD4	chr1:62207706-62208990	ECC-1	luminal epithelium:	n/a	n/a
43	MAFK	chr1:62207696-62207895	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr1:62207410-62209181	Hela-S3	cervix:	n/a	chr1:62207998-62208007 chr1:62207923-62207933 chr1:62207582-62207591 chr1:62207695-62207704
45	POLR2A	chr1:62207667-62208908	HEK293	kidney:	n/a	n/a
46	EP300	chr1:62207733-62208237	T-47D	breast:	n/a	n/a
47	ZNF143	chr1:62207759-62208488	GM12878	blood:	n/a	chr1:62207962-62207972 chr1:62208334-62208344
48	RUNX3	chr1:62207676-62208367	GM12878	blood:	n/a	n/a
49	E2F4	chr1:62207596-62208223	MCF10A-Er-Src	breast:	n/a	chr1:62207922-62207931
50	TAF1	chr1:62207676-62209108	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62207506..62208255-chr17:56708908..56709525,2	Hela-S3	cervix:
2	chr1:62190630..62191606-chr1:62207469..62208515,4	Hela-S3	cervix:
3	chr1:62207671..62208171-chr19:46271999..46272502,2	Hela-S3	cervix:
4	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
5	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
6	chr1:62207014..62208687-chr8:103424188..103425708,2	MCF-7	breast:
7	chr1:62207664..62208616-chr14:74318620..74319495,2	Hela-S3	cervix:
8	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM2D1-4	chr1:62207670-62208096	ENSG00000271200.1

Variant related genes	Relation type
INADL	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000177045	Chromatin interaction
ENSG00000140043	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000258653	Chromatin interaction
ENSG00000162604	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	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3422069	chr1:62206889-62209737	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:62206800-62208000	Bivalent/Poised TSS	HepG2	liver
3	chr1:62207000-62209800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:62207200-62207800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:62207200-62207800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr1:62207200-62207800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:62207200-62207800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr1:62207200-62207800	Flanking Active TSS	Fetal Kidney	kidney
9	chr1:62207200-62207800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr1:62207200-62208000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:62207200-62208000	Flanking Active TSS	Fetal Brain Male	brain
12	chr1:62207200-62208600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:62207200-62208600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:62207200-62208800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:62207200-62209000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:62207200-62209000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:62207200-62209000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:62207200-62209000	Active TSS	Brain Angular Gyrus	brain
19	chr1:62207200-62209000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:62207200-62209000	Active TSS	Fetal Intestine Small	intestine
21	chr1:62207200-62209000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:62207200-62209000	Active TSS	NHDF-Ad	bronchial
23	chr1:62207200-62209200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:62207200-62209200	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:62207200-62209200	Active TSS	Fetal Intestine Large	intestine
26	chr1:62207200-62209400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:62207200-62209400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:62207200-62209600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:62207200-62209600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:62207200-62209600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:62207200-62209600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:62207200-62209800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:62207400-62207800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:62207400-62207800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:62207400-62207800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:62207400-62207800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr1:62207400-62207800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr1:62207400-62207800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:62207400-62207800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:62207400-62207800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:62207400-62207800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:62207400-62207800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:62207400-62207800	Flanking Active TSS	Liver	Liver
44	chr1:62207400-62207800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:62207400-62207800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:62207400-62207800	Flanking Active TSS	Fetal Brain Female	brain
47	chr1:62207400-62207800	Flanking Active TSS	Fetal Heart	heart
48	chr1:62207400-62207800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:62207400-62207800	Flanking Active TSS	HUVEC	blood vessel
50	chr1:62207400-62208000	Flanking Active TSS	Primary T cells from cord blood	blood

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