Variant report

Variant	rs182759204
Chromosome Location	chr14:71108362-71108363
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	REST	chr14:71107678-71110030	H1-neurons	neurons:	n/a	chr14:71109567-71109577 chr14:71108389-71108402 chr14:71109918-71109931
2	MAX	chr14:71107792-71108628	Hela-S3	cervix:	n/a	chr14:71108554-71108564
3	POLR2A	chr14:71107764-71108910	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr14:71107408-71111056	GM12878	blood:	n/a	n/a
5	STAT5A	chr14:71107490-71108595	GM12878	blood:	n/a	n/a
6	MAX	chr14:71107599-71108732	MCF-7	breast:	n/a	chr14:71108554-71108564
7	YY1	chr14:71108353-71108707	GM12891	blood:	n/a	chr14:71108554-71108568 chr14:71108357-71108368
8	POLR2A	chr14:71107519-71111057	GM19099	blood:	n/a	n/a
9	MTA3	chr14:71108118-71108519	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:71107463-71108449	GM12892	blood:	n/a	n/a
11	POLR2A	chr14:71107559-71110560	GM18505	blood:	n/a	n/a
12	POLR2A	chr14:71107553-71109837	GM12892	blood:	n/a	n/a
13	TAF1	chr14:71108186-71108568	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:71107578-71110550	GM18526	blood:	n/a	n/a
15	TAF1	chr14:71107981-71108797	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr14:71107586-71110556	GM18951	blood:	n/a	n/a
17	MAZ	chr14:71107587-71108741	GM12878	blood:	n/a	chr14:71108554-71108564
18	ZNF263	chr14:71107628-71109987	HEK293-T-REx	kidney:	n/a	n/a
19	TCF12	chr14:71107649-71108394	A549	lung:	n/a	chr14:71108228-71108235
20	TCF7L2	chr14:71107665-71109225	HCT-116	colon:	n/a	n/a
21	CHD1	chr14:71107960-71108648	GM12878	blood:	n/a	chr14:71108359-71108369
22	RUNX3	chr14:71107559-71108607	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:71107571-71110585	GM15510	blood:	n/a	n/a
24	MAX	chr14:71107731-71108579	ECC-1	luminal epithelium:	n/a	chr14:71108554-71108564
25	MTA3	chr14:71107387-71108680	GM12878	blood:	n/a	n/a
26	ELF1	chr14:71107572-71109827	GM12878	blood:	n/a	chr14:71108549-71108561 chr14:71109566-71109578 chr14:71108276-71108285
27	MAX	chr14:71107854-71108770	A549	lung:	n/a	chr14:71108554-71108564
28	POLR2A	chr14:71107718-71108919	H1-neurons	neurons:	n/a	n/a
29	ZEB1	chr14:71107451-71108716	GM12878	blood:	n/a	n/a
30	CHD2	chr14:71108063-71108770	Hela-S3	cervix:	n/a	chr14:71108359-71108369
31	POLR2A	chr14:71107873-71108788	GM12878	blood:	n/a	n/a
32	TAF1	chr14:71107858-71108787	H1-neurons	neurons:	n/a	n/a
33	NRF1	chr14:71107485-71108398	GM12878	blood:	n/a	chr14:71108204-71108215 chr14:71108201-71108215
34	POLR2A	chr14:71107586-71109748	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:71107674-71109781	GM10847	blood:	n/a	n/a
36	RUNX3	chr14:71107376-71108384	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:71107693-71108607	GM12892	blood:	n/a	n/a
38	POLR2A	chr14:71107613-71110518	GM19193	blood:	n/a	n/a
39	HDAC2	chr14:71107403-71108790	MCF-7	breast:	n/a	n/a
40	HA-E2F1	chr14:71107890-71109152	Hela-S3	cervix:	n/a	chr14:71108833-71108843 chr14:71108824-71108834 chr14:71108277-71108287 chr14:71108696-71108711 chr14:71108205-71108214
41	CTCF	chr14:71108240-71108390	HRE	kidney:	n/a	n/a
42	ELF1	chr14:71107462-71108769	MCF-7	breast:	n/a	chr14:71108549-71108561 chr14:71108276-71108285
43	MAX	chr14:71107715-71108799	H1-hESC	embryonic stem cell:	n/a	chr14:71108554-71108564
44	SIN3A	chr14:71107108-71110474	H1-hESC	embryonic stem cell:	n/a	chr14:71109567-71109576
45	POLR2A	chr14:71108093-71108968	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr14:71107735-71108447	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:71107432-71108511	GM12891	blood:	n/a	n/a
48	POLR2A	chr14:71107423-71110555	GM12892	blood:	n/a	n/a
49	CHD2	chr14:71107597-71108690	GM12878	blood:	n/a	chr14:71108359-71108369
50	POLR2A	chr14:71107853-71108908	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
2	chr14:71108262..71108946-chr14:71275849..71276515,2	MCF-7	breast:
3	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
4	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245466	TF binding region
TTC9	TF binding region
ENSG00000259115	TF binding region
ENSG00000006432	Chromatin interaction
ENSG00000258689	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3409289	chr14:71107224-71110172	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:71107400-71109000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:71107400-71110000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:71107400-71110200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:71107400-71110200	Active TSS	Psoas Muscle	Psoas
9	chr14:71107600-71108400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
10	chr14:71107600-71108400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr14:71107600-71108400	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr14:71107600-71109000	Active TSS	Brain Anterior Caudate	brain
13	chr14:71107600-71109000	Active TSS	Colon Smooth Muscle	Colon
14	chr14:71107600-71109400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:71107600-71109600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:71107600-71109600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:71107600-71109600	Active TSS	Right Atrium	heart
18	chr14:71107600-71109800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:71107600-71110200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:71107600-71110400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr14:71107800-71108400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:71107800-71108400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr14:71107800-71108400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr14:71107800-71108400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr14:71107800-71109200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr14:71107800-71109400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:71107800-71109400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:71107800-71109600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71107800-71109600	Active TSS	Stomach Mucosa	stomach
30	chr14:71107800-71109800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:71107800-71109800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr14:71107800-71110200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:71107800-71110200	Active TSS	HSMM	muscle
34	chr14:71107800-71110400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr14:71107800-71110800	Active TSS	GM12878-XiMat	blood
36	chr14:71107800-71111000	Active TSS	HSMMtube	muscle
37	chr14:71108000-71108400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:71108000-71108400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:71108000-71108400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:71108000-71108400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:71108000-71108400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:71108000-71108400	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr14:71108000-71108800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr14:71108000-71108800	Active TSS	A549	lung
45	chr14:71108000-71109000	Active TSS	Primary B cells from cord blood	blood
46	chr14:71108000-71109000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr14:71108000-71109000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:71108000-71109000	Bivalent/Poised TSS	NHLF	lung
49	chr14:71108000-71109000	Bivalent/Poised TSS	Osteobl	bone
50	chr14:71108000-71109200	Active TSS	HUES48 Cell Line	embryonic stem cell

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