Variant report

Variant	rs28400022
Chromosome Location	chr14:31343950-31343951
allele	G/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	YY1	chr14:31343345-31343979	GM12892	blood:	n/a	chr14:31343743-31343752 chr14:31343486-31343500 chr14:31343422-31343436 chr14:31343741-31343752 chr14:31343741-31343755
2	E2F6	chr14:31343417-31344011	K562	blood:	n/a	chr14:31343605-31343614 chr14:31343696-31343705 chr14:31343691-31343703
3	CTCF	chr14:31343840-31343990	GM12875	blood:	n/a	n/a
4	PAX5	chr14:31343391-31344100	GM12892	blood:	n/a	n/a
5	CTCF	chr14:31343386-31343961	K562	blood:	n/a	chr14:31343624-31343642 chr14:31343625-31343641
6	TAF1	chr14:31343528-31344000	ECC-1	luminal epithelium:	n/a	n/a
7	HCFC1	chr14:31343462-31344064	K562	blood:	n/a	n/a
8	POLR2A	chr14:31343375-31344168	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:31343776-31344009	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:31343598-31344077	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:31343223-31344106	GM12892	blood:	n/a	n/a
12	ZBTB7A	chr14:31343318-31344402	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr14:31343165-31345050	NB4	blood:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
14	POLR2A	chr14:31343609-31344075	GM12878	blood:	n/a	n/a
15	CTCF	chr14:31343791-31344014	GM19240	blood:	n/a	n/a
16	ZNF143	chr14:31343319-31343994	GM12878	blood:	n/a	chr14:31343405-31343423
17	POLR2A	chr14:31343365-31344198	GM12878	blood:	n/a	n/a
18	CTCF	chr14:31343820-31343970	A549	lung:	n/a	n/a
19	HMGN3	chr14:31343282-31344804	K562	blood:	n/a	n/a
20	E2F6	chr14:31343338-31345221	H1-hESC	embryonic stem cell:	n/a	chr14:31343605-31343614 chr14:31343696-31343705 chr14:31343691-31343703
21	RCOR1	chr14:31343557-31344001	K562	blood:	n/a	n/a
22	NRF1	chr14:31343185-31344026	SK-N-SH	brain:	n/a	chr14:31343696-31343705 chr14:31343771-31343782 chr14:31343713-31343724
23	E2F6	chr14:31343435-31344077	A549	lung:	n/a	chr14:31343605-31343614 chr14:31343696-31343705 chr14:31343691-31343703
24	POLR2A	chr14:31343374-31344067	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr14:31343382-31344028	HL-60	blood:	n/a	n/a
26	CTCF	chr14:31343446-31344037	GM12892	blood:	n/a	chr14:31343624-31343642 chr14:31343625-31343641
27	TAF1	chr14:31343732-31344128	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:31343286-31344782	NB4	blood:	n/a	n/a
29	POLR2A	chr14:31343408-31343994	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:31343650-31344979	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:31343840-31343990	AG04449	skin:	n/a	n/a
32	CTCF	chr14:31343833-31343971	GM10248	blood:	n/a	n/a
33	UBTF	chr14:31342764-31344761	K562	blood:	n/a	n/a
34	MYBL2	chr14:31342680-31344172	HepG2	liver:	n/a	n/a
35	EGR1	chr14:31343482-31343999	K562	blood:	n/a	chr14:31343696-31343706
36	CTCF	chr14:31343880-31344030	HRPEpiC	eye:	n/a	n/a
37	MAX	chr14:31343142-31344283	HepG2	liver:	n/a	n/a
38	ELF1	chr14:31343519-31343952	K562	blood:	n/a	chr14:31343660-31343672 chr14:31343657-31343666 chr14:31343600-31343609
39	POLR2A	chr14:31343459-31343955	HepG2	liver:	n/a	n/a
40	MAX	chr14:31342934-31345122	K562	blood:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
41	TCF7L2	chr14:31343372-31343958	HCT-116	colon:	n/a	n/a
42	ELF1	chr14:31343402-31344076	HepG2	liver:	n/a	chr14:31343660-31343672 chr14:31343657-31343666 chr14:31343423-31343435 chr14:31343600-31343609
43	HNF4G	chr14:31343116-31344061	HepG2	liver:	n/a	chr14:31343228-31343236
44	POLR2A	chr14:31343347-31344058	A549	lung:	n/a	n/a
45	POLR2A	chr14:31343337-31344825	GM18951	blood:	n/a	n/a
46	MAX	chr14:31343079-31344208	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr14:31343650-31343992	GM12891	blood:	n/a	n/a
48	MBD4	chr14:31342843-31344211	HepG2	liver:	n/a	n/a
49	YY1	chr14:31343429-31343978	GM12878	blood:	n/a	chr14:31343743-31343752 chr14:31343486-31343500 chr14:31343741-31343752 chr14:31343741-31343755
50	ETS1	chr14:31343558-31344085	K562	blood:	n/a	chr14:31343699-31343710 chr14:31343697-31343708

No.	Distal block	Cell Line	Cell type
1	chr14:31090296..31092019-chr14:31343870..31346650,2	K562	blood:
2	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
3	chr14:31343274..31345144-chr14:31492852..31495272,2	K562	blood:

Variant related genes	Relation type
COCH	TF binding region
ENSG00000100478	Chromatin interaction
ENSG00000092108	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17097588	1.00[AMR][1000 genomes]

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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr14:31342000-31344600	Active TSS	Brain Anterior Caudate	brain
2	chr14:31342800-31344000	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr14:31343000-31344000	Active TSS	Pancreas	Pancrea
4	chr14:31343000-31344400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:31343000-31344600	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr14:31343000-31344800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr14:31343000-31345000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:31343000-31345200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr14:31343200-31344000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr14:31343200-31344000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:31343200-31344000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:31343200-31344000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr14:31343200-31344000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr14:31343200-31344200	Active TSS	Right Atrium	heart
15	chr14:31343200-31344400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:31343200-31344400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:31343200-31344400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:31343200-31344400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr14:31343200-31344400	Flanking Active TSS	Spleen	Spleen
20	chr14:31343200-31344600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr14:31343200-31344800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
22	chr14:31343200-31345000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:31343200-31345000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr14:31343200-31345000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:31343200-31345000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:31343200-31345000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:31343200-31345000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr14:31343200-31345000	Active TSS	K562	blood
29	chr14:31343200-31345200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:31343200-31345200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:31343200-31345200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:31343200-31345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:31343400-31344000	Active TSS	Aorta	Aorta
34	chr14:31343400-31344000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
35	chr14:31343400-31344000	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr14:31343400-31344200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:31343400-31344200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:31343400-31344200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr14:31343400-31344400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:31343400-31344400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr14:31343400-31344400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:31343400-31344400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr14:31343400-31344400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:31343400-31344400	Flanking Active TSS	Liver	Liver
45	chr14:31343400-31344400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
46	chr14:31343400-31344400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr14:31343400-31344400	Active TSS	A549	lung
48	chr14:31343400-31344400	Bivalent/Poised TSS	HSMM	muscle
49	chr14:31343400-31344400	Bivalent/Poised TSS	NHLF	lung
50	chr14:31343400-31344600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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