Variant report

Variant	rs73274136
Chromosome Location	chr14:68808639-68808640
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	EP300	chr14:68808536-68808957	GM12878	blood:	n/a	chr14:68808775-68808784
2	IKZF1	chr14:68808336-68808984	GM12878	blood:	n/a	n/a
3	NFIC	chr14:68808283-68808880	GM12878	blood:	n/a	n/a
4	FOXM1	chr14:68808364-68809049	GM12878	blood:	n/a	n/a
5	NFIC	chr14:68808066-68809098	GM12878	blood:	n/a	n/a
6	RUNX3	chr14:68808288-68808953	GM12878	blood:	n/a	n/a
7	RUNX3	chr14:68808223-68808909	GM12878	blood:	n/a	n/a
8	SPI1	chr14:68808417-68808754	GM12891	blood:	n/a	n/a
9	EP300	chr14:68808626-68809240	K562	blood:	n/a	chr14:68808775-68808784
10	MEF2A	chr14:68808305-68808929	GM12878	blood:	n/a	chr14:68808675-68808683
11	BHLHE40	chr14:68808510-68808999	GM12878	blood:	n/a	n/a
12	ATF2	chr14:68808250-68809007	GM12878	blood:	n/a	n/a
13	ZNF384	chr14:68808516-68808998	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr14:68808471-68809004	GM12878	blood:	n/a	n/a
15	EP300	chr14:68808468-68809207	GM12878	blood:	n/a	chr14:68808775-68808784
16	MTA3	chr14:68808176-68809366	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:68808575-68808969	SK-N-MC	brain:	n/a	n/a
18	EBF1	chr14:68808596-68808925	GM12878	blood:	n/a	n/a
19	CUX1	chr14:68808431-68808927	GM12878	blood:	n/a	n/a
20	EP300	chr14:68808472-68809055	GM12878	blood:	n/a	chr14:68808775-68808784
21	BCLAF1	chr14:68808441-68809041	GM12878	blood:	n/a	n/a
22	STAT5A	chr14:68808353-68808907	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68808236..68811175-chr14:68815933..68818264,2	K562	blood:
2	chr14:68808236..68810684-chr14:68816764..68819058,2	K562	blood:

Variant related genes	Relation type
ENSG00000240210	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs35050678	1.00[AMR][1000 genomes]
rs35538152	1.00[AMR][1000 genomes]
rs4902572	1.00[AMR][1000 genomes]
rs56801190	1.00[AMR][1000 genomes]
rs57556822	1.00[AMR][1000 genomes]
rs57745459	1.00[AMR][1000 genomes]
rs57955495	1.00[AMR][1000 genomes]
rs58407913	1.00[AMR][1000 genomes]
rs60271256	1.00[AMR][1000 genomes]
rs61166822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61169935	1.00[AMR][1000 genomes]
rs61290854	1.00[AMR][1000 genomes]
rs61512918	1.00[AMR][1000 genomes]
rs73274116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274125	1.00[AFR][1000 genomes]
rs73274156	1.00[AMR][1000 genomes]
rs73274164	1.00[AMR][1000 genomes]
rs73278399	1.00[AMR][1000 genomes]
rs73278401	1.00[AMR][1000 genomes]
rs73280314	1.00[AMR][1000 genomes]
rs73282338	1.00[AMR][1000 genomes]
rs73286262	1.00[AMR][1000 genomes]
rs73286263	1.00[AMR][1000 genomes]
rs73286265	1.00[AMR][1000 genomes]
rs73286273	1.00[AMR][1000 genomes]
rs73286279	1.00[AMR][1000 genomes]
rs73286288	1.00[AMR][1000 genomes]
rs73288023	1.00[AMR][1000 genomes]
rs73288038	1.00[AMR][1000 genomes]
rs73288047	1.00[AMR][1000 genomes]
rs73288065	1.00[AMR][1000 genomes]
rs73288068	1.00[AMR][1000 genomes]
rs73288074	1.00[AMR][1000 genomes]
rs74058874	1.00[AMR][1000 genomes]
rs8022646	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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68804000-68810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:68804000-68813400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:68804400-68812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:68805000-68808800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:68806200-68811200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:68806400-68808800	Enhancers	GM12878-XiMat	blood
10	chr14:68806400-68810800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:68806400-68810800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:68806400-68810800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:68806400-68811000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:68806600-68809600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:68806800-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:68807000-68808800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:68807000-68809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:68807000-68809600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr14:68807000-68811000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:68807000-68811000	Enhancers	Primary B cells from peripheral blood	blood
21	chr14:68807200-68810600	Weak transcription	Gastric	stomach
22	chr14:68807400-68809400	Enhancers	Primary B cells from cord blood	blood
23	chr14:68807600-68809200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:68807600-68811000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:68807800-68810000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:68808000-68809200	Enhancers	Fetal Lung	lung
27	chr14:68808000-68809400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:68808000-68809400	Enhancers	Fetal Stomach	stomach
29	chr14:68808200-68809000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:68808200-68809200	Enhancers	Fetal Intestine Small	intestine
31	chr14:68808200-68809200	Enhancers	Left Ventricle	heart
32	chr14:68808200-68809400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:68808200-68809400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:68808200-68809400	Enhancers	Fetal Heart	heart
35	chr14:68808200-68809600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:68808200-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:68808200-68809600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr14:68808200-68811000	Enhancers	Primary T cells from cord blood	blood
39	chr14:68808200-68811000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr14:68808200-68811200	Enhancers	Fetal Thymus	thymus
41	chr14:68808400-68808800	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:68808400-68809000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:68808400-68809000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:68808400-68809000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:68808400-68809000	Enhancers	Fetal Intestine Large	intestine
46	chr14:68808400-68809200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:68808400-68809200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr14:68808400-68809200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:68808400-68809200	Enhancers	Right Atrium	heart
50	chr14:68808400-68809200	Enhancers	Small Intestine	intestine

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