Variant report

Variant	rs1060415
Chromosome Location	chr14:103809125-103809126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103808256..103811622-chr14:103868458..103871526,5	K562	blood:
2	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
3	chr14:103757661..103760057-chr14:103808033..103810274,2	K562	blood:
4	chr14:103806698..103810659-chr14:103850742..103855221,6	MCF-7	breast:
5	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
6	chr14:103808960..103811171-chr14:103869358..103871126,2	K562	blood:
7	chr14:103808733..103811293-chr14:103846736..103850136,4	K562	blood:
8	chr14:103807388..103810930-chr14:103850916..103853619,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction
ENSG00000243904	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10873537	1.00[ASW][hapmap]
rs17095251	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	162 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103802000-103811000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:103802000-103811600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103802000-103811600	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr14:103802200-103811800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:103802400-103811200	Strong transcription	Aorta	Aorta
6	chr14:103802400-103811600	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr14:103802400-103811800	Strong transcription	Fetal Lung	lung
8	chr14:103802600-103809600	Strong transcription	HSMMtube	muscle
9	chr14:103802600-103810600	Strong transcription	NHEK	skin
10	chr14:103802600-103811000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:103802600-103811000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:103802600-103811200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:103802600-103811600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:103802600-103811600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:103802600-103811800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:103802800-103810600	Strong transcription	Fetal Brain Male	brain
17	chr14:103802800-103810600	Strong transcription	Ovary	ovary
18	chr14:103802800-103810800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:103802800-103810800	Strong transcription	Psoas Muscle	Psoas
20	chr14:103802800-103810800	Strong transcription	HSMM	muscle
21	chr14:103802800-103811000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:103802800-103811000	Strong transcription	Gastric	stomach
23	chr14:103802800-103811000	Strong transcription	Pancreas	Pancrea
24	chr14:103802800-103811000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:103802800-103811200	Strong transcription	Lung	lung
26	chr14:103802800-103811400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:103802800-103811400	Strong transcription	Placenta	Placenta
28	chr14:103802800-103811400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:103802800-103811600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr14:103802800-103811600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:103802800-103811600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:103802800-103811600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:103802800-103811600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:103802800-103811600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:103802800-103811600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:103802800-103811600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:103802800-103811600	Strong transcription	Thymus	Thymus
38	chr14:103802800-103811800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:103802800-103811800	Strong transcription	Brain Germinal Matrix	brain
40	chr14:103802800-103811800	Strong transcription	Esophagus	oesophagus
41	chr14:103802800-103811800	Strong transcription	Fetal Muscle Leg	muscle
42	chr14:103802800-103811800	Strong transcription	Fetal Stomach	stomach
43	chr14:103802800-103812000	Strong transcription	Fetal Brain Female	brain
44	chr14:103802800-103812000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:103802800-103812200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:103803000-103809200	Genic enhancers	Liver	Liver
47	chr14:103803000-103810600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr14:103803000-103811000	Strong transcription	HUVEC	blood vessel
49	chr14:103803000-103811200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:103803000-103811200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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