Variant report

Variant	rs8008801
Chromosome Location	chr14:105837213-105837214
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	CTCF	chr14:105837170-105837489	MCF-7	breast:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
2	E2F6	chr14:105837017-105837663	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr14:105837195-105837472	K562	blood:	n/a	chr14:105837319-105837333 chr14:105837318-105837337
4	MXI1	chr14:105837139-105837744	IMR90	lung:	n/a	n/a
5	MAX	chr14:105837207-105837496	K562	blood:	n/a	chr14:105837402-105837412
6	SMC3	chr14:105837165-105837698	K562	blood:	n/a	chr14:105837319-105837333
7	RAD21	chr14:105837066-105837515	HepG2	liver:	n/a	chr14:105837319-105837333 chr14:105837318-105837337
8	MAX	chr14:105837070-105837611	ECC-1	luminal epithelium:	n/a	chr14:105837402-105837412
9	MAX	chr14:105837148-105837512	Hela-S3	cervix:	n/a	chr14:105837402-105837412
10	SMC3	chr14:105837138-105837578	Hela-S3	cervix:	n/a	chr14:105837319-105837333
11	WRNIP1	chr14:105837196-105837468	GM12878	blood:	n/a	n/a
12	FOXA1	chr14:105837171-105837443	T-47D	breast:	n/a	n/a
13	CTCF	chr14:105837147-105837579	T-47D	breast:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
14	MYC	chr14:105837184-105837551	K562	blood:	n/a	chr14:105837402-105837412
15	CTCF	chr14:105837111-105837532	H1-hESC	embryonic stem cell:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
16	CTCF	chr14:105837033-105837706	HCT-116	colon:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
17	MAX	chr14:105837040-105837580	H1-hESC	embryonic stem cell:	n/a	chr14:105837402-105837412
18	SIN3AK20	chr14:105837207-105837491	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:105837193-105837552	HepG2	liver:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
20	CHD2	chr14:105837195-105837493	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:105837208-105837474	Hela-S3	cervix:	n/a	n/a
22	JUND	chr14:105837185-105837512	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:105837154-105837504	GM12892	blood:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
24	TCF7L2	chr14:105837072-105837477	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr14:105837188-105837473	HepG2	liver:	n/a	n/a
26	CTCF	chr14:105837167-105837482	Gliobla	brain:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
27	CTCF	chr14:105837199-105837456	A549	lung:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
28	CTCF	chr14:105836985-105837856	HCT-116	colon:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
29	RCOR1	chr14:105837210-105837429	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr14:105837150-105837568	HepG2	liver:	n/a	chr14:105837319-105837333 chr14:105837318-105837337
31	CTCF	chr14:105837182-105837473	K562	blood:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
32	CTCF	chr14:105837175-105837485	MCF-7	breast:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
33	YY1	chr14:105837128-105837474	GM12878	blood:	n/a	n/a
34	CTCF	chr14:105837176-105837541	A549	lung:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
35	SP1	chr14:105837140-105837504	GM12878	blood:	n/a	n/a
36	SIN3A	chr14:105837104-105837553	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr14:105836951-105838501	SK-N-SH	brain:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
38	MYC	chr14:105837200-105837543	H1-hESC	embryonic stem cell:	n/a	chr14:105837402-105837412
39	CTCF	chr14:105837180-105837468	MCF-7	breast:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
40	FOXP2	chr14:105837166-105837512	SK-N-MC	brain:	n/a	n/a
41	RAD21	chr14:105837150-105837554	H1-hESC	embryonic stem cell:	n/a	chr14:105837319-105837333 chr14:105837318-105837337
42	RAD21	chr14:105837063-105837535	SK-N-SH_RA	brain:	n/a	chr14:105837319-105837333 chr14:105837318-105837337
43	CTCF	chr14:105837192-105837453	GM10248	blood:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
44	FOXP2	chr14:105837189-105837479	PFSK-1	brain:	n/a	n/a
45	CREB1	chr14:105837129-105837499	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr14:105837197-105837578	K562	blood:	n/a	chr14:105837402-105837412
47	CTCF	chr14:105837166-105837496	GM19239	blood:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
48	RCOR1	chr14:105837206-105837474	K562	blood:	n/a	n/a
49	CTCF	chr14:105837152-105837522	GM12891	blood:	n/a	chr14:105837318-105837334 chr14:105837319-105837340 chr14:105837317-105837335
50	GTF2F1	chr14:105837212-105837468	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105832763..105834678-chr14:105835775..105838108,3	MCF-7	breast:
2	chr14:105834893..105837362-chr14:105955659..105958778,4	K562	blood:
3	chr14:105835405..105837440-chr14:105952296..105953921,2	MCF-7	breast:
4	chr14:105835990..105838531-chr14:105887072..105888868,2	K562	blood:
5	chr14:105837208..105837715-chr14:105955998..105956665,2	MCF-7	breast:
6	chr14:105836883..105837807-chr14:105954015..105955163,3	MCF-7	breast:
7	chr14:105836081..105839933-chr14:105841542..105845768,4	K562	blood:
8	chr14:105836131..105838773-chr14:105914904..105916971,2	MCF-7	breast:
9	chr14:105836871..105837817-chr14:105994397..105995338,4	K562	blood:
10	chr14:105836859..105837790-chr14:105998865..105999407,2	K562	blood:
11	chr14:105834429..105839243-chr14:105954962..105958915,8	MCF-7	breast:
12	chr14:105833869..105838890-chr14:105955015..105958603,6	MCF-7	breast:
13	chr14:105830268..105832387-chr14:105835786..105838233,2	K562	blood:
14	chr14:105835819..105838497-chr14:105841259..105843602,2	MCF-7	breast:
15	chr14:105834893..105839221-chr14:105955521..105958937,5	K562	blood:
16	chr14:105836836..105837743-chr14:105914835..105915416,2	K562	blood:
17	chr14:105835985..105837885-chr14:105989782..105992568,2	MCF-7	breast:
18	chr14:105836833..105837792-chr14:105956015..105957455,6	K562	blood:
19	chr14:105835152..105837242-chr14:105847808..105849887,2	K562	blood:

Variant related genes	Relation type
RPS20P33	TF binding region
ENSG00000213145	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000182979	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10132353	1.00[JPT][hapmap]
rs10132438	1.00[JPT][hapmap]
rs10141048	1.00[JPT][hapmap]
rs10141334	1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes]
rs10142682	1.00[JPT][hapmap]
rs10147378	1.00[JPT][hapmap]
rs10147674	1.00[JPT][hapmap]
rs10148379	1.00[JPT][hapmap]
rs10148455	1.00[JPT][hapmap]
rs11846567	0.87[ASW][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.88[MKK][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11847128	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11849421	1.00[JPT][hapmap]
rs12101178	1.00[JPT][hapmap]
rs28406946	1.00[ASN][1000 genomes]
rs28444495	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28450331	1.00[ASN][1000 genomes]
rs28461287	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28488281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28507499	1.00[ASN][1000 genomes]
rs28529001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28548340	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28588179	1.00[ASN][1000 genomes]
rs28733380	1.00[ASN][1000 genomes]
rs4073351	1.00[ASN][1000 genomes]
rs4074004	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4076933	0.93[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983411	1.00[JPT][hapmap]
rs57091581	1.00[ASN][1000 genomes]
rs57244820	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58214606	1.00[ASN][1000 genomes]
rs60505080	1.00[ASN][1000 genomes]
rs61326617	1.00[ASN][1000 genomes]
rs7144362	1.00[JPT][hapmap]
rs7161158	1.00[JPT][hapmap]
rs73361060	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8004328	1.00[JPT][hapmap]
rs8010649	1.00[JPT][hapmap];0.80[LWK][hapmap];0.92[MKK][hapmap]
rs8010888	0.93[ASW][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016693	1.00[JPT][hapmap]
rs9671295	1.00[JPT][hapmap]
rs9671890	1.00[JPT][hapmap]

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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:105808600-105848600	Weak transcription	HSMMtube	muscle
3	chr14:105814200-105848600	Weak transcription	Left Ventricle	heart
4	chr14:105818600-105846000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:105818800-105849200	Weak transcription	A549	lung
6	chr14:105821800-105842600	Weak transcription	Fetal Brain Male	brain
7	chr14:105822000-105848800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:105822800-105847800	Weak transcription	Liver	Liver
9	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:105823800-105837400	Weak transcription	HSMM	muscle
11	chr14:105823800-105846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:105823800-105849600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:105825600-105848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:105827600-105837800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:105827800-105847600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:105831000-105863800	Weak transcription	Fetal Kidney	kidney
17	chr14:105831400-105840600	Weak transcription	NHEK	skin
18	chr14:105831400-105844400	Weak transcription	Stomach Mucosa	stomach
19	chr14:105831400-105848800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:105831400-105864000	Weak transcription	Osteobl	bone
21	chr14:105831600-105837400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:105831600-105842000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:105831600-105842400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:105831600-105850600	Weak transcription	Fetal Heart	heart
25	chr14:105831600-105855200	Strong transcription	Fetal Stomach	stomach
26	chr14:105831600-105863200	Weak transcription	NHDF-Ad	bronchial
27	chr14:105831800-105837400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:105831800-105837400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:105831800-105838600	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:105831800-105838600	Strong transcription	Lung	lung
31	chr14:105831800-105838800	Strong transcription	Fetal Intestine Large	intestine
32	chr14:105832000-105838600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:105832000-105841600	Strong transcription	Fetal Intestine Small	intestine
34	chr14:105832000-105842000	Weak transcription	Fetal Thymus	thymus
35	chr14:105832200-105849600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:105832800-105838600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:105832800-105838600	Strong transcription	Placenta	Placenta
38	chr14:105833000-105841600	Strong transcription	Brain Germinal Matrix	brain
39	chr14:105833400-105838800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:105833600-105838200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:105833600-105838600	Strong transcription	Fetal Brain Female	brain
42	chr14:105834000-105837400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr14:105834000-105842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:105834600-105848400	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:105834800-105841800	Weak transcription	Primary T cells from cord blood	blood
46	chr14:105834800-105846200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:105835200-105837400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:105835200-105837400	Weak transcription	Dnd41	blood
49	chr14:105835200-105848600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:105835200-105848600	Weak transcription	Rectal Mucosa Donor 29	rectum

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