Variant report

Variant	rs1957570
Chromosome Location	chr14:68729224-68729225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68718502..68724365-chr14:68724697..68730654,11	MCF-7	breast:
2	chr14:68726719..68728326-chr14:68728463..68730963,2	MCF-7	breast:
3	chr14:68727081..68730048-chr14:68748759..68751215,2	MCF-7	breast:
4	chr14:68728077..68730051-chr14:68734736..68736706,2	MCF-7	breast:
5	chr14:68722518..68726023-chr14:68727697..68732553,5	K562	blood:
6	chr14:68721191..68725230-chr14:68727220..68729721,4	MCF-7	breast:
7	chr14:68726546..68729527-chr14:68773268..68775241,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10131490	0.98[EUR][1000 genomes]
rs1108007	0.85[CHB][hapmap]
rs17105278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105463	0.85[CHB][hapmap]
rs17105469	0.85[CHB][hapmap]
rs17105515	0.85[CHB][hapmap]
rs1885013	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1950897	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1957569	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2104047	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2208397	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs28498223	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784097	0.93[ASN][1000 genomes]
rs3784099	0.91[CEU][hapmap];0.91[GIH][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4902562	0.87[LWK][hapmap]
rs7148416	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7148882	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8008961	0.95[CEU][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs8015139	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs911263	0.85[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1957570	ADAM20	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68718800-68730600	Weak transcription	Fetal Intestine Large	intestine
2	chr14:68718800-68730600	Weak transcription	Small Intestine	intestine
3	chr14:68722400-68739800	Weak transcription	Gastric	stomach
4	chr14:68723400-68730400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:68723400-68736000	Weak transcription	Aorta	Aorta
6	chr14:68723600-68730400	Weak transcription	Fetal Kidney	kidney
7	chr14:68724800-68730000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr14:68725000-68731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:68725400-68730200	Enhancers	Fetal Thymus	thymus
10	chr14:68725400-68731000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:68725400-68731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr14:68725400-68731200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:68725400-68731200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:68725400-68731400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:68725400-68731600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:68725400-68731800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:68726000-68734600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:68726200-68729800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:68726200-68730000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:68726400-68731800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:68726600-68730000	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:68726600-68730600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr14:68726600-68730600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:68726800-68731000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:68726800-68731000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:68727000-68729400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:68727000-68729600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:68727000-68729600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:68727200-68730000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:68727400-68729400	Enhancers	Thymus	Thymus
31	chr14:68727400-68732200	Enhancers	Fetal Lung	lung
32	chr14:68727800-68729400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:68728200-68729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:68728200-68730000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:68728200-68730000	Weak transcription	Adipose Nuclei	Adipose
36	chr14:68728200-68731600	Enhancers	Primary T cells from cord blood	blood
37	chr14:68728200-68731800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:68728400-68731200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:68728400-68733000	Enhancers	GM12878-XiMat	blood
40	chr14:68728600-68729800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:68728600-68729800	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:68728600-68730000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:68728600-68730800	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:68728600-68731600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:68728600-68731800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:68728600-68731800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:68728800-68729800	Weak transcription	Fetal Stomach	stomach
48	chr14:68728800-68730000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr14:68728800-68730000	Enhancers	K562	blood
50	chr14:68728800-68730200	Weak transcription	Stomach Smooth Muscle	stomach

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