Variant report

Variant	rs17105811
Chromosome Location	chr14:77922049-77922050
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	SREBP1	chr14:77921955-77926011	GM12878	blood:	n/a	chr14:77924845-77924859
2	BACH1	chr14:77921969-77922066	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
2	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
3	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:
4	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
5	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:

Variant related genes	Relation type
AHSA1	TF binding region
VIPAS39	TF binding region
ENSG00000100591	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000212371	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10145540	1.00[CHD][hapmap]
rs17105723	1.00[CHD][hapmap]
rs17105732	1.00[CHD][hapmap]
rs17751412	1.00[MEX][hapmap]
rs17824567	1.00[CHD][hapmap]
rs8005999	1.00[CHD][hapmap]
rs8177544	1.00[MEX][hapmap]
rs8177550	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77891600-77923200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:77894200-77923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:77896200-77923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77901800-77923000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:77909800-77923200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:77915600-77922800	Weak transcription	Small Intestine	intestine
7	chr14:77915800-77923000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:77916000-77922600	Weak transcription	Hela-S3	cervix
9	chr14:77916000-77923200	Weak transcription	Aorta	Aorta
10	chr14:77916200-77923200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:77916200-77923400	Weak transcription	Pancreas	Pancrea
12	chr14:77916400-77923200	Weak transcription	Esophagus	oesophagus
13	chr14:77916600-77922800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:77916600-77922800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:77916800-77922600	Weak transcription	Fetal Heart	heart
16	chr14:77916800-77922800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:77916800-77922800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:77917000-77922800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:77917400-77922800	Weak transcription	Fetal Brain Male	brain
20	chr14:77917600-77922800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:77917800-77922800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:77917800-77923000	Weak transcription	Psoas Muscle	Psoas
23	chr14:77918000-77922200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:77918200-77922800	Weak transcription	HMEC	breast
25	chr14:77918200-77923200	Weak transcription	Gastric	stomach
26	chr14:77918200-77923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:77918400-77922200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:77918400-77922800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:77918400-77922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:77918400-77922800	Weak transcription	NHDF-Ad	bronchial
31	chr14:77918400-77923200	Weak transcription	Lung	lung
32	chr14:77919400-77922800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:77919600-77922800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:77919600-77923400	Weak transcription	Spleen	Spleen
35	chr14:77919800-77922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:77919800-77922400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:77919800-77922600	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:77919800-77922800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:77919800-77922800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:77919800-77922800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:77919800-77922800	Weak transcription	Adipose Nuclei	Adipose
42	chr14:77919800-77922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:77919800-77922800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:77919800-77922800	Weak transcription	Fetal Thymus	thymus
45	chr14:77919800-77922800	Weak transcription	A549	lung
46	chr14:77919800-77922800	Weak transcription	HSMM	muscle
47	chr14:77919800-77922800	Weak transcription	NH-A	brain
48	chr14:77919800-77922800	Weak transcription	NHEK	skin
49	chr14:77919800-77923000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:77919800-77923200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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