Variant report

Variant	rs17782603
Chromosome Location	chr14:68137101-68137102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68083805..68088096-chr14:68136243..68139181,3	MCF-7	breast:
2	chr14:68132675..68135592-chr14:68137064..68139756,3	K562	blood:
3	chr14:68051111..68055342-chr14:68135625..68139936,6	K562	blood:
4	chr14:68133955..68137188-chr14:68149480..68152660,3	MCF-7	breast:
5	chr14:68132783..68137458-chr14:68138173..68142358,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201529	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1117516	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622069	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11629160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11849521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057119	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2295111	0.82[MEX][hapmap];0.83[YRI][hapmap]
rs2295643	0.88[JPT][hapmap]
rs2320027	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759763	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784087	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902507	0.98[ASN][1000 genomes]
rs55695655	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55711201	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55790812	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55919049	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56038131	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56385621	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61990129	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991864	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991865	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61991866	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149133	0.95[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7156352	0.88[JPT][hapmap]
rs742869	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
2	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
4	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
7	chr14:68124200-68139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:68124400-68138000	Weak transcription	Ovary	ovary
9	chr14:68124400-68139400	Weak transcription	Aorta	Aorta
10	chr14:68124400-68139400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:68124400-68139400	Weak transcription	Spleen	Spleen
12	chr14:68124400-68139600	Weak transcription	Colonic Mucosa	Colon
13	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:68124800-68138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:68124800-68139200	Weak transcription	Lung	lung
17	chr14:68125000-68139600	Weak transcription	HUVEC	blood vessel
18	chr14:68125800-68138400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:68125800-68140200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:68126000-68139400	Weak transcription	Fetal Brain Female	brain
21	chr14:68126600-68139400	Weak transcription	Fetal Lung	lung
22	chr14:68126600-68139400	Weak transcription	Hela-S3	cervix
23	chr14:68126600-68140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:68126800-68139600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:68126800-68140400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:68127000-68138600	Weak transcription	HepG2	liver
27	chr14:68127000-68139400	Weak transcription	NH-A	brain
28	chr14:68127200-68139400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:68127200-68139400	Weak transcription	HSMMtube	muscle
30	chr14:68127400-68139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:68127600-68138400	Weak transcription	Esophagus	oesophagus
32	chr14:68127800-68139400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:68127800-68140200	Weak transcription	A549	lung
34	chr14:68128200-68138800	Weak transcription	Left Ventricle	heart
35	chr14:68128600-68140000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:68128800-68139400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:68129400-68139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:68129400-68139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:68129600-68139800	Weak transcription	Placenta	Placenta
40	chr14:68130000-68139400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68130000-68139600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:68132200-68139400	Weak transcription	Fetal Stomach	stomach
43	chr14:68133000-68139400	Weak transcription	HMEC	breast
44	chr14:68133000-68140200	Weak transcription	HSMM	muscle
45	chr14:68133200-68139400	Weak transcription	NHEK	skin
46	chr14:68133800-68139000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:68133800-68139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:68133800-68139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:68133800-68139400	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:68134000-68138400	Weak transcription	Adipose Nuclei	Adipose

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