Variant report

Variant	rs3806315
Chromosome Location	chr1:214724668-214724669
allele	C/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	CHD2	chr1:214724053-214726035	Hela-S3	cervix:	n/a	chr1:214725448-214725458
2	RAD21	chr1:214723253-214725937	IMR90	lung:	n/a	chr1:214725286-214725300
3	BACH1	chr1:214724536-214725341	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:214721854-214726272	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr1:214724166-214726144	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:214724092-214726030	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr1:214724144-214726028	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:214724361-214726101	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr1:214723986-214725649	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr1:214724253-214726185	U87	brain:	n/a	n/a
11	POLR2A	chr1:214723233-214726498	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr1:214724279-214726223	A549	lung:	n/a	chr1:214724975-214724985
13	EP300	chr1:214724207-214726225	ECC-1	luminal epithelium:	n/a	n/a
14	REST	chr1:214724109-214726090	A549	lung:	n/a	chr1:214725250-214725257 chr1:214724988-214725001 chr1:214724337-214724350 chr1:214724954-214724967 chr1:214724331-214724344
15	TAF1	chr1:214724646-214725995	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr1:214724517-214725537	A549	lung:	n/a	chr1:214725286-214725300
17	TAF1	chr1:214724280-214726087	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr1:214724361-214726092	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr1:214724477-214726125	U87	brain:	n/a	n/a
20	TCF12	chr1:214724668-214726266	SK-N-SH	brain:	n/a	chr1:214726179-214726187
21	MAX	chr1:214724247-214726110	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr1:214724405-214725142	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:214724505-214725953	MCF-7	breast:	n/a	n/a
24	POLR2A	chr1:214724338-214725910	GM19193	blood:	n/a	n/a
25	RCOR1	chr1:214724492-214726060	Hela-S3	cervix:	n/a	n/a
26	SMC3	chr1:214724077-214726133	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:214724046-214726146	IMR90	lung:	n/a	n/a
28	GTF2F1	chr1:214724618-214726065	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr1:214724503-214725065	A549	lung:	n/a	n/a
30	TCF7L2	chr1:214724259-214725941	HCT-116	colon:	n/a	n/a
31	MXI1	chr1:214723095-214726423	IMR90	lung:	n/a	chr1:214723874-214723883
32	POLR2A	chr1:214724094-214726004	ProgFib	skin:	n/a	n/a
33	TCF12	chr1:214724223-214726246	ECC-1	luminal epithelium:	n/a	chr1:214726179-214726187
34	POLR2A	chr1:214724385-214725986	A549	lung:	n/a	n/a
35	POLR2A	chr1:214724485-214724724	A549	lung:	n/a	n/a
36	PBX3	chr1:214724534-214726093	SK-N-SH	brain:	n/a	n/a
37	MAX	chr1:214724147-214726113	Hela-S3	cervix:	n/a	n/a
38	E2F4	chr1:214724655-214725987	MCF10A-Er-Src	breast:	n/a	chr1:214725520-214725530 chr1:214725038-214725048 chr1:214725790-214725805 chr1:214725523-214725533
39	POLR2A	chr1:214724491-214725943	A549	lung:	n/a	n/a
40	POLR2A	chr1:214723988-214726233	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr1:214724475-214725530	HepG2	liver:	n/a	n/a
42	TEAD4	chr1:214724287-214726032	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr1:214723912-214726466	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:214724201-214726054	Gliobla	brain:	n/a	n/a
45	SP1	chr1:214724338-214726084	A549	lung:	n/a	chr1:214725022-214725034 chr1:214725000-214725014
46	TAF1	chr1:214723790-214726465	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:214724594-214726071	MCF-7	breast:	n/a	n/a
48	POLR2A	chr1:214724237-214726077	HCT-116	colon:	n/a	n/a
49	POLR2A	chr1:214723504-214726015	MCF10A-Er-Src	breast:	n/a	n/a
50	TAF1	chr1:214724190-214726027	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:214453197..214455713-chr1:214724274..214726472,2	MCF-7	breast:
2	chr1:214724010..214724940-chr9:91925831..91926625,2	Hela-S3	cervix:
3	chr1:214656600..214658506-chr1:214723643..214725822,2	MCF-7	breast:
4	chr1:214503401..214505126-chr1:214723463..214724967,2	MCF-7	breast:

Variant related genes	Relation type
PTPN14	TF binding region
ENSG00000123975	Chromatin interaction
ENSG00000143499	Chromatin interaction
ENSG00000213036	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12142746	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4311856	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660643	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214721800-214725800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:214722200-214726000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:214722200-214726000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:214722400-214725600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:214722400-214726000	Active TSS	Psoas Muscle	Psoas
6	chr1:214722400-214726000	Active TSS	HMEC	breast
7	chr1:214722600-214725400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:214722600-214726000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:214722600-214726000	Active TSS	NHDF-Ad	bronchial
10	chr1:214722600-214726200	Active TSS	Aorta	Aorta
11	chr1:214722800-214725400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:214722800-214726600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:214723000-214725400	Active TSS	Osteobl	bone
14	chr1:214723000-214726000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:214723000-214726000	Active TSS	HSMM	muscle
16	chr1:214723000-214726200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:214723000-214726400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:214723200-214725400	Active TSS	NHEK	skin
19	chr1:214723200-214725800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:214723200-214726000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:214723200-214726000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:214723200-214726000	Active TSS	NHLF	lung
23	chr1:214723200-214726200	Active TSS	Colonic Mucosa	Colon
24	chr1:214723200-214726200	Active TSS	Duodenum Mucosa	Duodenum
25	chr1:214723200-214726200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:214723400-214725400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:214723400-214725400	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr1:214723400-214725400	Active TSS	NH-A	brain
29	chr1:214723400-214725600	Active TSS	Gastric	stomach
30	chr1:214723400-214725600	Active TSS	HSMMtube	muscle
31	chr1:214723400-214725800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:214723400-214725800	Active TSS	Esophagus	oesophagus
33	chr1:214723400-214726000	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:214723400-214726000	Active TSS	Ovary	ovary
35	chr1:214723400-214726000	Active TSS	Placenta Amnion	Placenta Amnion
36	chr1:214723400-214726200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:214723400-214726200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:214723600-214725000	Flanking Active TSS	Dnd41	blood
39	chr1:214723600-214725400	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:214723600-214725800	Active TSS	Brain Hippocampus Middle	brain
41	chr1:214723600-214726000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:214723600-214726000	Active TSS	Brain Substantia Nigra	brain
43	chr1:214723600-214726000	Active TSS	Fetal Kidney	kidney
44	chr1:214723600-214726000	Active TSS	Left Ventricle	heart
45	chr1:214723600-214726400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:214723600-214726600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:214723800-214725400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:214723800-214725400	Active TSS	Brain Angular Gyrus	brain
49	chr1:214723800-214725400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr1:214723800-214725800	Active TSS	Colon Smooth Muscle	Colon

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