Variant report

Variant	rs7154258
Chromosome Location	chr14:67982254-67982255
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	MAX	chr14:67981489-67982737	A549	lung:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520 chr14:67981712-67981722
2	MAX	chr14:67981481-67982715	H1-hESC	embryonic stem cell:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520 chr14:67981712-67981722
3	MAX	chr14:67982055-67982753	MCF-7	breast:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
4	MYC	chr14:67982234-67982599	K562	blood:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
5	MAX	chr14:67981073-67982765	MCF-7	breast:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67981389-67981399 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520 chr14:67981712-67981722
6	PAX5	chr14:67982017-67982340	GM12892	blood:	n/a	n/a
7	POLR2A	chr14:67981339-67982503	GM19099	blood:	n/a	n/a
8	EP300	chr14:67981746-67982506	SK-N-SH	brain:	n/a	chr14:67981980-67981996 chr14:67982245-67982261
9	RCOR1	chr14:67981424-67982937	IMR90	lung:	n/a	n/a
10	CTCF	chr14:67982240-67982390	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr14:67982220-67982370	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr14:67981348-67982479	GM18951	blood:	n/a	n/a
13	MAX	chr14:67981986-67982632	H1-hESC	embryonic stem cell:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
14	SIN3AK20	chr14:67982146-67982589	H1-hESC	embryonic stem cell:	n/a	n/a
15	HMGN3	chr14:67981557-67982397	K562	blood:	n/a	n/a
16	TCF3	chr14:67981832-67982412	GM12878	blood:	n/a	chr14:67982350-67982364
17	SIN3A	chr14:67981111-67982648	H1-hESC	embryonic stem cell:	n/a	chr14:67981173-67981186 chr14:67982510-67982519
18	CHD2	chr14:67982200-67982334	GM12878	blood:	n/a	n/a
19	MYC	chr14:67982171-67982359	MCF10A-Er-Src	breast:	n/a	chr14:67982333-67982343
20	CTCF	chr14:67982200-67982350	GM12871	blood:	n/a	n/a
21	ZNF143	chr14:67981904-67982794	H1-hESC	embryonic stem cell:	n/a	chr14:67981908-67981918
22	MXI1	chr14:67981364-67982768	SK-N-SH	brain:	n/a	chr14:67982510-67982519 chr14:67982512-67982521
23	ZBTB7A	chr14:67981937-67982346	K562	blood:	n/a	n/a
24	CTCF	chr14:67982180-67982330	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr14:67982220-67982370	HMEC	breast:	n/a	n/a
26	CTCF	chr14:67982180-67982330	GM12868	blood:	n/a	n/a
27	MXI1	chr14:67982026-67982574	H1-hESC	embryonic stem cell:	n/a	chr14:67982510-67982519 chr14:67982512-67982521
28	MXI1	chr14:67981292-67982342	IMR90	lung:	n/a	n/a
29	MAX	chr14:67981806-67982599	K562	blood:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
30	CTCF	chr14:67982180-67982330	GM12871	blood:	n/a	n/a
31	MYC	chr14:67981960-67982565	MCF-7	breast:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
32	HDAC2	chr14:67980957-67982757	MCF-7	breast:	n/a	n/a
33	ZBTB7A	chr14:67981531-67982365	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
2	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:
3	chr14:67981445..67983281-chr15:99192294..99193975,2	MCF-7	breast:
4	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000140443	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10133618	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10134444	0.81[AMR][1000 genomes]
rs10143518	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158675	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158676	0.80[AMR][1000 genomes]
rs11158677	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11621977	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627207	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12878949	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12878981	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12879556	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12887115	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1555397	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1555398	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1555399	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980614	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273596	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899206	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902477	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7140327	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7140470	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144333	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144624	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155830	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155911	0.80[AMR][1000 genomes]
rs7156144	0.80[AMR][1000 genomes]
rs7160654	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160944	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161368	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8019176	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8019974	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3357417	chr14:67980624-67983572	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67979800-67982600	Enhancers	Fetal Brain Male	brain
2	chr14:67980600-67982600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:67980800-67982400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:67980800-67982600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:67980800-67982600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:67981000-67982400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:67981000-67982400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:67981000-67982400	Active TSS	Fetal Intestine Large	intestine
9	chr14:67981000-67982600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:67981000-67982600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:67981000-67982600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:67981000-67982600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:67981000-67982600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:67981000-67982600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:67981200-67982400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:67981200-67982400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:67981200-67982400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr14:67981200-67982400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:67981200-67982400	Active TSS	Colon Smooth Muscle	Colon
20	chr14:67981200-67982400	Active TSS	Ovary	ovary
21	chr14:67981200-67982400	Active TSS	Right Atrium	heart
22	chr14:67981200-67982400	Active TSS	HSMM	muscle
23	chr14:67981200-67982400	Active TSS	NHDF-Ad	bronchial
24	chr14:67981200-67982400	Active TSS	Osteobl	bone
25	chr14:67981200-67982600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr14:67981200-67982600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:67981400-67982400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:67981400-67982400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:67981400-67982400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:67981400-67982400	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr14:67981400-67982400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:67981400-67982400	Active TSS	Aorta	Aorta
33	chr14:67981400-67982400	Active TSS	Brain Anterior Caudate	brain
34	chr14:67981400-67982400	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:67981400-67982400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr14:67981400-67982400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:67981400-67982400	Active TSS	Brain Substantia Nigra	brain
38	chr14:67981400-67982400	Active TSS	Duodenum Mucosa	Duodenum
39	chr14:67981400-67982400	Active TSS	Fetal Intestine Small	intestine
40	chr14:67981400-67982400	Active TSS	Gastric	stomach
41	chr14:67981400-67982400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr14:67981400-67982400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr14:67981400-67982400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr14:67981400-67982400	Active TSS	Small Intestine	intestine
45	chr14:67981400-67982400	Bivalent/Poised TSS	HepG2	liver
46	chr14:67981400-67982400	Active TSS	NHLF	lung
47	chr14:67981400-67982600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:67981400-67982600	Active TSS	Brain Angular Gyrus	brain
49	chr14:67981400-67982600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr14:67981400-67982600	Active TSS	Fetal Brain Female	brain

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