Variant report

Variant	rs1200407
Chromosome Location	chr14:35307691-35307692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35307665..35310113-chr8:53057249..53059119,2	MCF-7	breast:
2	chr14:35304358..35308375-chr14:35341669..35345183,4	MCF-7	breast:
3	chr14:35305953..35310100-chr14:35318091..35320683,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198604	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11844821	1.00[EUR][1000 genomes]
rs1200411	0.81[AFR][1000 genomes]
rs1209419	0.96[YRI][hapmap]
rs17102651	1.00[EUR][1000 genomes]
rs4627225	1.00[EUR][1000 genomes]
rs56094516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158753	0.86[YRI][hapmap]
rs799690	1.00[EUR][1000 genomes]
rs8005844	1.00[EUR][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	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
3	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
5	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
7	chr14:35274400-35312400	Weak transcription	Gastric	stomach
8	chr14:35274800-35312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
10	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
12	chr14:35276600-35320000	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:35277200-35322000	Weak transcription	Fetal Intestine Large	intestine
14	chr14:35282600-35323400	Weak transcription	Lung	lung
15	chr14:35290600-35311800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:35292400-35312200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:35292600-35312000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:35292600-35312400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:35292600-35322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:35292600-35322800	Weak transcription	Thymus	Thymus
21	chr14:35292800-35320200	Weak transcription	Fetal Stomach	stomach
22	chr14:35293800-35311800	Weak transcription	NH-A	brain
23	chr14:35294200-35310200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:35294400-35311400	Weak transcription	HMEC	breast
25	chr14:35294400-35311800	Weak transcription	NHLF	lung
26	chr14:35294400-35312200	Weak transcription	Hela-S3	cervix
27	chr14:35295000-35310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:35295000-35322800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:35295200-35327000	Weak transcription	Spleen	Spleen
30	chr14:35296200-35321600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:35296400-35310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:35296400-35311800	Weak transcription	HSMM	muscle
33	chr14:35296400-35312000	Weak transcription	K562	blood
34	chr14:35296400-35312400	Weak transcription	Fetal Thymus	thymus
35	chr14:35296600-35311200	Weak transcription	NHEK	skin
36	chr14:35296600-35315400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:35298200-35310000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:35298200-35310400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:35298200-35311200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:35298200-35312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:35300000-35308600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:35300600-35311400	Weak transcription	Dnd41	blood
43	chr14:35301200-35312000	Weak transcription	Psoas Muscle	Psoas
44	chr14:35301200-35312400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:35303600-35311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:35303600-35311400	Weak transcription	Adipose Nuclei	Adipose
47	chr14:35303600-35311800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:35303600-35311800	Weak transcription	NHDF-Ad	bronchial
49	chr14:35303800-35311400	Weak transcription	GM12878-XiMat	blood
50	chr14:35303800-35311800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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