Variant report

Variant	rs17101620
Chromosome Location	chr14:103916916-103916917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103914502..103918340-chr14:103920632..103922963,4	MCF-7	breast:
2	chr14:103908524..103912690-chr14:103913411..103917216,6	MCF-7	breast:
3	chr14:103909074..103912796-chr14:103914984..103919219,5	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10162425	0.80[ASN][1000 genomes]
rs1107070	0.83[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11160751	0.80[ASN][1000 genomes]
rs1116095	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11620897	0.80[ASN][1000 genomes]
rs11627446	0.80[ASN][1000 genomes]
rs12432803	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs12435516	0.87[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12436729	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs12588272	0.88[ASN][1000 genomes]
rs12878548	0.85[ASN][1000 genomes]
rs12882393	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12894652	0.88[ASN][1000 genomes]
rs17841064	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2273701	0.89[ASN][1000 genomes]
rs2273702	0.82[ASN][1000 genomes]
rs2403174	0.88[ASN][1000 genomes]
rs2756128	0.80[ASN][1000 genomes]
rs2756132	0.87[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2756135	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2765049	0.82[ASN][1000 genomes]
rs2765051	0.85[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs34411783	0.85[ASN][1000 genomes]
rs34831235	0.85[ASN][1000 genomes]
rs34956416	0.83[EUR][1000 genomes]
rs35233301	0.83[ASN][1000 genomes]
rs35374941	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35410438	0.83[ASN][1000 genomes]
rs3759577	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap]
rs4900573	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4900580	0.82[ASN][1000 genomes]
rs4906319	0.83[CHB][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs4906320	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4906324	0.89[ASN][1000 genomes]
rs4906329	0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs55658071	0.80[ASN][1000 genomes]
rs55742283	0.88[ASN][1000 genomes]
rs57344120	0.86[ASN][1000 genomes]
rs60235428	0.85[ASN][1000 genomes]
rs6575979	0.86[GIH][hapmap]
rs6575982	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6575985	0.82[ASN][1000 genomes]
rs6575991	0.87[ASN][1000 genomes]
rs7140647	0.84[ASN][1000 genomes]
rs7146215	0.89[ASN][1000 genomes]
rs7147664	0.82[JPT][hapmap]
rs7149767	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7156036	0.87[ASN][1000 genomes]
rs7160888	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003740	0.83[ASN][1000 genomes]
rs8010247	0.86[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs8014013	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs8014800	0.88[ASN][1000 genomes]
rs8015429	0.84[ASN][1000 genomes]
rs8016676	0.87[ASN][1000 genomes]
rs8018400	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs911552	0.87[JPT][hapmap]
rs911554	0.87[JPT][hapmap]
rs911555	0.87[JPT][hapmap]
rs975892	0.87[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap];0.83[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	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
2	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
3	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17101620	CCNK	cis	parietal	SCAN
rs17101620	NCRNA00221	cis	cerebellum	SCAN
rs17101620	MEG3	cis	parietal	SCAN
rs17101620	EVL	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:103889400-103917800	Weak transcription	Gastric	stomach
4	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
7	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:103901000-103917800	Weak transcription	Thymus	Thymus
14	chr14:103901200-103918400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:103901400-103917800	Weak transcription	Placenta	Placenta
16	chr14:103901600-103920000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:103901600-103928600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:103904200-103918200	Weak transcription	Fetal Intestine Large	intestine
19	chr14:103904200-103920000	Weak transcription	HUVEC	blood vessel
20	chr14:103905200-103917800	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:103905400-103920000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:103905800-103918400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:103906400-103917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:103906600-103917800	Weak transcription	Fetal Thymus	thymus
25	chr14:103906600-103920800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:103906800-103918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:103907000-103918400	Weak transcription	Primary T cells from cord blood	blood
28	chr14:103908000-103919000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:103908200-103917800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:103908200-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:103908400-103917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:103908400-103919800	Weak transcription	NHEK	skin
33	chr14:103908600-103920000	Weak transcription	Fetal Intestine Small	intestine
34	chr14:103909600-103917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:103910200-103923400	Weak transcription	GM12878-XiMat	blood
36	chr14:103910400-103917800	Weak transcription	HSMM	muscle
37	chr14:103910800-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:103912000-103917800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:103912000-103921600	Weak transcription	NHLF	lung
40	chr14:103912200-103921800	Weak transcription	HSMMtube	muscle
41	chr14:103912200-103927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:103912200-103928400	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:103912200-103930000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:103912400-103917800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:103912400-103917800	Weak transcription	Dnd41	blood
47	chr14:103912400-103918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:103912400-103918400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr14:103912400-103924000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:103912400-103928600	Weak transcription	H1 Cell Line	embryonic stem cell

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