Variant report

Variant	rs61166822
Chromosome Location	chr14:68807051-68807052
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	EBF1	chr14:68806969-68807315	GM12878	blood:	n/a	chr14:68807115-68807126 chr14:68807148-68807159
2	MAX	chr14:68807015-68807378	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr14:68806979-68807341	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:68807022-68807269	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr14:68807005-68807119	GM12878	blood:	n/a	n/a
6	E2F6	chr14:68807009-68807334	H1-hESC	embryonic stem cell:	n/a	n/a
7	MEF2A	chr14:68806813-68807212	GM12878	blood:	n/a	n/a
8	IKZF1	chr14:68806718-68807220	GM12878	blood:	n/a	n/a
9	E2F6	chr14:68806896-68807368	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFIC	chr14:68806738-68807272	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68806501..68808073-chr14:68812909..68815753,2	MCF-7	breast:
2	chr14:68802480..68804741-chr14:68806549..68808439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240210	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

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]
rs56933151	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]
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]
rs73274136	1.00[AFR][1000 genomes];1.00[AMR][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:37 , 50 per page) page: 1

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	chr14:68799800-68808000	Weak transcription	Fetal Lung	lung
5	chr14:68800000-68807400	Weak transcription	Fetal Stomach	stomach
6	chr14:68800000-68808200	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:68800000-68808400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:68804000-68810400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:68804000-68813400	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:68804400-68807400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:68804400-68808200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:68804400-68812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:68804600-68808200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:68804800-68808200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:68805000-68808800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:68805200-68807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:68805200-68808200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:68805200-68808400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:68806200-68811200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:68806400-68808800	Enhancers	GM12878-XiMat	blood
21	chr14:68806400-68810800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:68806400-68810800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:68806400-68810800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:68806400-68811000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:68806600-68809600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:68806800-68807600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:68806800-68807800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr14:68806800-68809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:68807000-68807200	Enhancers	Gastric	stomach
30	chr14:68807000-68807200	Enhancers	Left Ventricle	heart
31	chr14:68807000-68807400	Weak transcription	Primary B cells from cord blood	blood
32	chr14:68807000-68807600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:68807000-68808800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:68807000-68809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:68807000-68809600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:68807000-68811000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:68807000-68811000	Enhancers	Primary B cells from peripheral blood	blood

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