Variant report

Variant	rs17104575
Chromosome Location	chr14:68142971-68142972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68140706-68143131	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:68142968-68143207	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:68142796-68143469	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:68140544-68143607	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
2	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
3	chr14:68084959..68087068-chr14:68141857..68143794,2	K562	blood:
4	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
5	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
6	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:
7	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
8	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
9	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
10	chr14:67825002..67827453-chr14:68141571..68143576,2	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
ENSG00000100554	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000272253	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000134001	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10483800	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17104534	1.00[YRI][hapmap]
rs17104654	1.00[YRI][hapmap]
rs2234516	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs73276639	0.95[AFR][1000 genomes]
rs73276645	0.91[AFR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68144200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:68142200-68144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:68142200-68144200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:68142200-68144200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:68142200-68144200	Weak transcription	Ovary	ovary
7	chr14:68142200-68144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:68142200-68144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:68142200-68144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:68142200-68144400	Weak transcription	Aorta	Aorta
11	chr14:68142200-68144400	Weak transcription	Esophagus	oesophagus
12	chr14:68142200-68144400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:68142200-68147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:68142200-68147800	Weak transcription	Small Intestine	intestine
15	chr14:68142200-68149600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:68142200-68149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
19	chr14:68142400-68143000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:68142400-68143000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:68142400-68143200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:68142400-68143200	Weak transcription	HUVEC	blood vessel
23	chr14:68142400-68143400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:68142400-68143400	Weak transcription	Fetal Brain Female	brain
25	chr14:68142400-68143400	Weak transcription	HSMM	muscle
26	chr14:68142400-68143800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:68142400-68143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:68142400-68143800	Weak transcription	Liver	Liver
29	chr14:68142400-68143800	Weak transcription	Fetal Thymus	thymus
30	chr14:68142400-68143800	Weak transcription	NH-A	brain
31	chr14:68142400-68144000	Weak transcription	K562	blood
32	chr14:68142400-68144000	Weak transcription	NHDF-Ad	bronchial
33	chr14:68142400-68144200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:68142400-68144200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:68142400-68144200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:68142400-68144200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:68142400-68144200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:68142400-68144200	Weak transcription	Primary T cells from cord blood	blood
39	chr14:68142400-68144200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:68142400-68144200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:68142400-68144200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:68142400-68144200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:68142400-68144200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:68142400-68144200	Weak transcription	Brain Angular Gyrus	brain
45	chr14:68142400-68144200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:68142400-68144200	Weak transcription	Brain Germinal Matrix	brain
47	chr14:68142400-68144200	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:68142400-68144200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:68142400-68144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:68142400-68144200	Weak transcription	Brain Substantia Nigra	brain

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