Variant report

Variant	rs4899302
Chromosome Location	chr14:70041487-70041488
allele	A/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	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	SP4	chr14:70041392-70041690	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr14:70041255-70041809	H1-hESC	embryonic stem cell:	n/a	chr14:70041603-70041616 chr14:70041312-70041322 chr14:70041602-70041614 chr14:70041604-70041614
4	ZNF143	chr14:70041471-70041782	K562	blood:	n/a	chr14:70041589-70041607
5	CTCF	chr14:70041460-70041610	HAc	cerebellar:	n/a	n/a
6	CTCF	chr14:70041482-70041750	LNCaP	prostate:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
7	CTCF	chr14:70041430-70041832	K562	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
8	MAX	chr14:70041441-70041662	K562	blood:	n/a	chr14:70041457-70041467
9	MAX	chr14:70041195-70041840	ECC-1	luminal epithelium:	n/a	chr14:70041457-70041467
10	MAX	chr14:70041150-70041781	H1-hESC	embryonic stem cell:	n/a	chr14:70041457-70041467
11	RCOR1	chr14:70041471-70041760	K562	blood:	n/a	n/a
12	RAD21	chr14:70041370-70041804	HepG2	liver:	n/a	chr14:70041603-70041616 chr14:70041602-70041614 chr14:70041604-70041614
13	MYC	chr14:70041461-70041687	K562	blood:	n/a	n/a
14	RAD21	chr14:70041410-70041808	GM12878	blood:	n/a	chr14:70041603-70041616 chr14:70041602-70041614 chr14:70041604-70041614
15	CHD2	chr14:70041259-70041667	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr14:70041291-70041881	ECC-1	luminal epithelium:	n/a	chr14:70041603-70041616 chr14:70041312-70041322 chr14:70041602-70041614 chr14:70041604-70041614
17	JUND	chr14:70041443-70041684	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr14:70041479-70041701	K562	blood:	n/a	chr14:70041603-70041616 chr14:70041602-70041614 chr14:70041604-70041614
19	RAD21	chr14:70041417-70041799	IMR90	lung:	n/a	chr14:70041603-70041616 chr14:70041602-70041614 chr14:70041604-70041614
20	CTCF	chr14:70041460-70041610	WI-38	lung:	n/a	n/a
21	CTCF	chr14:70041462-70041743	MCF-7	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
22	TCF12	chr14:70041283-70041721	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr14:70041467-70041723	Fibrobl	skin:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
24	CTCF	chr14:70040977-70042126	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041141-70041154 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
25	E2F6	chr14:70041152-70041792	H1-hESC	embryonic stem cell:	n/a	chr14:70041273-70041288 chr14:70041340-70041349
26	CTCF	chr14:70041459-70041738	H1-hESC	embryonic stem cell:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
27	MAX	chr14:70041361-70041774	SK-N-SH	brain:	n/a	chr14:70041457-70041467
28	RAD21	chr14:70041419-70041803	A549	lung:	n/a	chr14:70041603-70041616 chr14:70041602-70041614 chr14:70041604-70041614
29	RAD21	chr14:70041185-70041907	HCT-116	colon:	n/a	chr14:70041603-70041616 chr14:70041312-70041322 chr14:70041602-70041614 chr14:70041604-70041614
30	CTCF	chr14:70041235-70041971	MCF-7	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
31	RAD21	chr14:70041198-70041918	MCF-7	breast:	n/a	chr14:70041603-70041616 chr14:70041312-70041322 chr14:70041602-70041614 chr14:70041604-70041614
32	RAD21	chr14:70041385-70041902	A549	lung:	n/a	chr14:70041603-70041616 chr14:70041602-70041614 chr14:70041604-70041614
33	CTCF	chr14:70041406-70041743	Gliobla	brain:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
34	MAX	chr14:70041084-70041852	H1-hESC	embryonic stem cell:	n/a	chr14:70041457-70041467
35	MAX	chr14:70041453-70041511	HepG2	liver:	n/a	chr14:70041457-70041467
36	CTCF	chr14:70041356-70041827	T-47D	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
37	NFIC	chr14:70041109-70041618	ECC-1	luminal epithelium:	n/a	n/a
38	SMC3	chr14:70041024-70042106	SK-N-SH	brain:	n/a	chr14:70041613-70041627 chr14:70041604-70041614 chr14:70041613-70041623 chr14:70041141-70041155
39	RAD21	chr14:70041308-70041905	MCF-7	breast:	n/a	chr14:70041603-70041616 chr14:70041312-70041322 chr14:70041602-70041614 chr14:70041604-70041614
40	MYC	chr14:70041270-70041806	H1-hESC	embryonic stem cell:	n/a	chr14:70041457-70041467
41	REST	chr14:70040120-70042029	H1-neurons	neurons:	n/a	chr14:70041308-70041317 chr14:70040123-70040141 chr14:70040122-70040142 chr14:70040518-70040531 chr14:70040126-70040139 chr14:70040129-70040142 chr14:70040122-70040142
42	CTCF	chr14:70041367-70041770	HepG2	liver:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
43	CTCF	chr14:70041401-70041753	GM12891	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
44	POLR2A	chr14:70041123-70041704	H1-neurons	neurons:	n/a	n/a
45	YY1	chr14:70041396-70041690	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3A	chr14:70041110-70041720	H1-hESC	embryonic stem cell:	n/a	chr14:70041228-70041237
47	MYC	chr14:70041472-70041763	MCF10A-Er-Src	breast:	n/a	n/a
48	CTCF	chr14:70041432-70041806	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
49	TAF1	chr14:70041012-70041677	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr14:70041469-70041687	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69709466..69710008-chr14:70041288..70042008,2	MCF-7	breast:
2	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
3	chr14:70041091..70041642-chr14:70193316..70193928,2	MCF-7	breast:
4	chr14:69970369..69971161-chr14:70041166..70042114,4	MCF-7	breast:
5	chr14:69970362..69971107-chr14:70041144..70041646,2	K562	blood:
6	chr14:70001699..70002644-chr14:70040741..70042019,6	MCF-7	breast:
7	chr14:70001682..70002652-chr14:70041139..70042080,9	MCF-7	breast:

Variant related genes	Relation type
CCDC177	TF binding region
ENSG00000267909	TF binding region
ENSG00000255994	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10747300	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1957366	0.81[LWK][hapmap]
rs2184598	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2877576	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784148	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3784150	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3784151	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3809394	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3809396	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4899306	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142060	0.93[EUR][1000 genomes]
rs8015482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1824330	chr14:70037611-70042464	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70039400-70041600	Enhancers	Gastric	stomach
2	chr14:70039400-70041600	Bivalent Enhancer	HUVEC	blood vessel
3	chr14:70039400-70045000	Weak transcription	Hela-S3	cervix
4	chr14:70039600-70041600	Enhancers	Pancreas	Pancrea
5	chr14:70040000-70041800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70040200-70041600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr14:70040200-70041600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
8	chr14:70040200-70041600	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr14:70040400-70041600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70040400-70041600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:70040400-70041600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:70040400-70041600	Bivalent Enhancer	Liver	Liver
13	chr14:70040400-70041600	Active TSS	Brain Anterior Caudate	brain
14	chr14:70040400-70041600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
15	chr14:70040400-70041600	Bivalent Enhancer	Fetal Lung	lung
16	chr14:70040400-70041600	Bivalent Enhancer	Placenta	Placenta
17	chr14:70040400-70041600	Bivalent Enhancer	Lung	lung
18	chr14:70040400-70042000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:70040600-70041600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:70040600-70041600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr14:70040600-70041600	Bivalent Enhancer	Colon Smooth Muscle	Colon
22	chr14:70040600-70041600	Bivalent/Poised TSS	HepG2	liver
23	chr14:70040600-70041800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:70040600-70041800	Active TSS	Brain Germinal Matrix	brain
25	chr14:70040800-70041600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr14:70040800-70041600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:70040800-70041600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:70040800-70041600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:70040800-70041600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:70040800-70041600	Bivalent Enhancer	Fetal Thymus	thymus
31	chr14:70040800-70041600	Enhancers	Spleen	Spleen
32	chr14:70040800-70041800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr14:70040800-70041800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr14:70040800-70042000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:70041000-70041600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:70041000-70041600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr14:70041000-70041600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr14:70041000-70041600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:70041000-70041600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
41	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr14:70041000-70041600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
44	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
46	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr14:70041000-70041600	Flanking Bivalent TSS/Enh	NHEK	skin
49	chr14:70041200-70041600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:70041200-70041600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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