Variant report

Variant	rs7160654
Chromosome Location	chr14:67983491-67983492
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	SPI1	chr14:67983377-67983698	HL-60	blood:	n/a	n/a
2	MYC	chr14:67983419-67983717	NB4	blood:	n/a	chr14:67983591-67983602 chr14:67983593-67983600 chr14:67983591-67983601 chr14:67983591-67983602 chr14:67983592-67983602 chr14:67983592-67983601 chr14:67983592-67983601 chr14:67983592-67983602 chr14:67983591-67983602
3	MAX	chr14:67983409-67983996	NB4	blood:	n/a	chr14:67983591-67983602 chr14:67983593-67983600 chr14:67983591-67983601 chr14:67983591-67983602 chr14:67983592-67983602 chr14:67983592-67983601 chr14:67983592-67983601 chr14:67983592-67983602 chr14:67983591-67983602
4	MAX	chr14:67983486-67983656	K562	blood:	n/a	chr14:67983591-67983602 chr14:67983593-67983600 chr14:67983591-67983601 chr14:67983591-67983602 chr14:67983592-67983602 chr14:67983592-67983601 chr14:67983592-67983601 chr14:67983592-67983602 chr14:67983591-67983602

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:67983484-67983534	SK-N-SH	brain:	n/a
2	chr14:67983484-67983534	ProgFib	skin:	n/a
3	chr14:67983484-67983534	LNCaP	prostate:	n/a
4	chr14:67983484-67983534	HEK293	kidney:	embryo
5	chr14:67983484-67983534	AG04449	skin:	fetal
6	chr14:67983484-67983534	BJ	skin:	n/a
7	chr14:67983484-67983534	HCF	heart:	n/a
8	chr14:67983484-67983534	HCPEpiC	choroid plexus:	n/a
9	chr14:67983484-67983534	Hepatocyte	liver:	n/a
10	chr14:67983484-67983534	HAEpiC	amniotic membrane:	n/a
11	chr14:67983484-67983534	AG09319	gingival:	n/a
12	chr14:67983484-67983534	U87	brain:	n/a
13	chr14:67983484-67983534	RPTEC	kidney:	n/a
14	chr14:67983484-67983534	IMR90	lung:	fetal
15	chr14:67983484-67983534	HCT-116	colon:	n/a
16	chr14:67983484-67983534	CMK	blood:	n/a
17	chr14:67983484-67983534	HUVEC	blood vessel:	n/a
18	chr14:67983484-67983534	NHBE	bronchial:	n/a
19	chr14:67983484-67983534	T-47D	breast:	n/a
20	chr14:67983484-67983534	SK-N-SH_RA	brain:	n/a
21	chr14:67983484-67983534	SKMC	muscle:	n/a
22	chr14:67983484-67983534	K562	blood:	n/a
23	chr14:67983484-67983534	AG10803	skin:	n/a
24	chr14:67983484-67983534	PrEC	prostate:	n/a
25	chr14:67983484-67983534	HPAEpiC	pulmonary alveolar:	n/a
26	chr14:67983484-67983534	NB4	blood:	n/a
27	chr14:67983484-67983534	AoSMC	blood vessel:	n/a
28	chr14:67983484-67983534	AG09309	skin:	n/a
29	chr14:67983484-67983534	NHDF-neo	bronchial:	n/a
30	chr14:67983484-67983534	PANC-1	pancreas:	n/a
31	chr14:67983484-67983534	ECC-1	luminal epithelium:	n/a
32	chr14:67983484-67983534	PFSK-1	brain:	n/a
33	chr14:67983484-67983534	GM12892	blood:	n/a
34	chr14:67983484-67983534	HL-60	blood:	n/a
35	chr14:67983484-67983534	HCM	heart:	n/a
36	chr14:67983484-67983534	NT2-D1	testis:	n/a
37	chr14:67983484-67983534	AG04450	lung:	fetal
38	chr14:67983484-67983534	H1-hESC	embryonic stem cell:	embryo
39	chr14:67983484-67983534	Jurkat	blood:	n/a
40	chr14:67983484-67983534	NH-A	brain:	n/a
41	chr14:67983484-67983534	HepG2	liver:	n/a
42	chr14:67983484-67983534	SAEC	small airway:	n/a
43	chr14:67983484-67983534	MCF10A-Er-Src	breast:	n/a
44	chr14:67983484-67983534	Hela-S3	cervix:	n/a
45	chr14:67983484-67983534	GM12891	blood:	n/a
46	chr14:67983484-67983534	Caco-2	colon:	n/a
47	chr14:67983484-67983534	HRCEpiC	kidney:	n/a
48	chr14:67983484-67983534	GM12878	blood:	n/a
49	chr14:67983484-67983534	HMEC	breast:	n/a
50	chr14:67983484-67983534	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67982264..67984804-chr14:68036407..68038355,2	MCF-7	breast:
2	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
3	chr14:67953824..67955734-chr14:67983233..67985363,2	MCF-7	breast:
4	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10133618	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134444	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10143518	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873204	0.84[ASN][1000 genomes]
rs11158675	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158676	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11158677	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158678	0.84[ASN][1000 genomes]
rs11621977	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627207	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878981	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12887115	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555397	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555398	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980614	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273596	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899206	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902477	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140327	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140470	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144333	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154258	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155830	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155911	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7156144	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7160944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011307	0.83[ASN][1000 genomes]
rs8019176	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019974	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67982600-67983600	Weak transcription	Brain Substantia Nigra	brain
2	chr14:67982600-67983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:67982600-67983800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr14:67982600-67983800	Weak transcription	Colonic Mucosa	Colon
5	chr14:67982600-67983800	Weak transcription	Gastric	stomach
6	chr14:67982600-67983800	Weak transcription	Pancreas	Pancrea
7	chr14:67982600-67983800	Weak transcription	Right Ventricle	heart
8	chr14:67982600-67983800	Weak transcription	Thymus	Thymus
9	chr14:67982600-67983800	Weak transcription	Spleen	Spleen
10	chr14:67982600-67984000	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:67982600-67984000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:67982600-67984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:67982600-67984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:67982600-67984000	Enhancers	Brain Angular Gyrus	brain
15	chr14:67982600-67984000	Enhancers	Colon Smooth Muscle	Colon
16	chr14:67982600-67984000	Bivalent Enhancer	Placenta	Placenta
17	chr14:67982600-67999000	Weak transcription	Right Atrium	heart
18	chr14:67982800-67983600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:67982800-67983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:67982800-67983800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:67982800-67983800	Weak transcription	Liver	Liver
22	chr14:67982800-67983800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr14:67982800-67984000	Enhancers	Primary hematopoietic stem cells	blood
24	chr14:67982800-67984000	Enhancers	Brain Anterior Caudate	brain
25	chr14:67982800-67984000	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:67982800-67984000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:67982800-67984200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:67982800-67984600	Enhancers	Primary B cells from cord blood	blood
29	chr14:67983000-67983600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:67983000-67984000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr14:67983000-67984000	Bivalent Enhancer	HepG2	liver
32	chr14:67983000-67984200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:67983000-67985400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:67983000-67986200	Enhancers	Fetal Thymus	thymus
35	chr14:67983000-67987400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:67983200-67983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:67983400-67984000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr14:67983400-67984000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr14:67983400-67984200	Enhancers	Primary monocytes fromperipheralblood	blood

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