Variant report

Variant	rs17117195
Chromosome Location	chr14:73011726-73011727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72980402..72983329-chr14:73011655..73014017,2	K562	blood:
2	chr14:73004202..73006328-chr14:73010940..73013710,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10151504	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17117221	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17117326	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs17117590	1.00[CEU][hapmap]
rs4903030	1.00[JPT][hapmap]
rs56771173	1.00[EUR][1000 genomes]
rs57401932	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58361653	1.00[EUR][1000 genomes]
rs60642139	1.00[EUR][1000 genomes]
rs61175412	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61299139	0.84[AFR][1000 genomes]
rs61696507	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146557	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:73009000-73016400	Enhancers	HSMMtube	muscle
2	chr14:73009400-73015600	Enhancers	HSMM	muscle
3	chr14:73009600-73016800	Enhancers	Fetal Muscle Leg	muscle
4	chr14:73009800-73012400	Enhancers	Fetal Stomach	stomach
5	chr14:73009800-73013800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:73009800-73014800	Enhancers	Fetal Muscle Trunk	muscle
7	chr14:73009800-73015000	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:73010000-73012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:73010000-73012800	Enhancers	Fetal Lung	lung
10	chr14:73010000-73013600	Enhancers	Liver	Liver
11	chr14:73010000-73015400	Enhancers	Fetal Brain Male	brain
12	chr14:73010200-73011800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:73010200-73011800	Enhancers	Fetal Heart	heart
14	chr14:73010200-73012400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:73010200-73012400	Enhancers	Placenta	Placenta
16	chr14:73010200-73014400	Enhancers	Primary B cells from cord blood	blood
17	chr14:73010400-73011800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:73010400-73012400	Weak transcription	Fetal Thymus	thymus
19	chr14:73010600-73012600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:73010600-73014800	Enhancers	Right Ventricle	heart
21	chr14:73010800-73011800	Enhancers	Lung	lung
22	chr14:73010800-73012000	Enhancers	Fetal Kidney	kidney
23	chr14:73010800-73012200	Enhancers	Brain Cingulate Gyrus	brain
24	chr14:73010800-73012400	Enhancers	Brain Hippocampus Middle	brain
25	chr14:73010800-73012800	Enhancers	Esophagus	oesophagus
26	chr14:73010800-73012800	Enhancers	Ovary	ovary
27	chr14:73010800-73013000	Enhancers	NHEK	skin
28	chr14:73010800-73013200	Enhancers	HMEC	breast
29	chr14:73010800-73013600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:73010800-73013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:73010800-73013800	Enhancers	Fetal Brain Female	brain
32	chr14:73011000-73011800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:73011000-73012000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:73011000-73012200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:73011000-73012200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:73011000-73012200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:73011000-73012200	Enhancers	Brain Angular Gyrus	brain
38	chr14:73011000-73012200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:73011000-73012200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:73011000-73012600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:73011000-73012800	Enhancers	Spleen	Spleen
42	chr14:73011000-73013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:73011000-73013000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:73011000-73013800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:73011200-73012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr14:73011200-73012000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:73011200-73012000	Enhancers	Brain Substantia Nigra	brain
48	chr14:73011200-73012000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr14:73011200-73012200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:73011200-73012200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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