Variant report

Variant	rs12588705
Chromosome Location	chr14:103865477-103865478
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103864300..103866211-chr14:103870088..103873019,2	K562	blood:
2	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:
3	chr14:103863256..103865942-chr14:103868346..103872041,4	MCF-7	breast:
4	chr1:11969845..11972544-chr14:103864785..103867784,2	MCF-7	breast:
5	chr14:103860462..103863338-chr14:103864074..103867631,4	K562	blood:
6	chr14:103849131..103853013-chr14:103859929..103865676,7	MCF-7	breast:
7	chr14:103837532..103839266-chr14:103865081..103866860,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201801	Chromatin interaction
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10459573	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11160750	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11160752	0.81[ASN][1000 genomes]
rs11541718	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625172	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12147655	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12185021	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12879663	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881583	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882130	0.83[AMR][1000 genomes]
rs12883668	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12885234	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12885714	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12885762	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12885786	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888042	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889703	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892062	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12894275	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12896612	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896832	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896919	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13987	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17617094	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17617307	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17617832	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17617935	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17679729	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17680085	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1951389	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065015	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065016	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065017	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2065018	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246490	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28711288	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34161327	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347076	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34372508	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34479426	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34606394	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35056010	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35126287	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35224956	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35339837	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35344594	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35366629	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35443927	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35466180	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35771849	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35799018	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35862113	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35999760	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783396	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783397	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783398	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783400	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4900574	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900575	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4906323	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4906327	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906330	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4906331	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4906332	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55731474	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55930273	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59858038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7141674	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71417863	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7143609	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155822	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155980	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7159665	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7401563	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8004501	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8004780	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8012127	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8012623	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs911549	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	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
5	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
3	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
4	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
9	chr14:103859400-103866000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:103860400-103866200	Weak transcription	Lung	lung
11	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:103860800-103867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:103860800-103871400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:103861000-103865600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:103861000-103866200	Weak transcription	Spleen	Spleen
16	chr14:103861000-103866400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:103861000-103866600	Weak transcription	Dnd41	blood
18	chr14:103861000-103867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:103861000-103867800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:103861000-103867800	Weak transcription	Esophagus	oesophagus
21	chr14:103861000-103867800	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:103862000-103866400	Weak transcription	Fetal Thymus	thymus
25	chr14:103862000-103867600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
27	chr14:103862400-103866000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:103862400-103867000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:103862400-103867400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:103862400-103870200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:103862600-103866400	Weak transcription	Thymus	Thymus
32	chr14:103862600-103866800	Weak transcription	Primary B cells from cord blood	blood
33	chr14:103862600-103867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:103862600-103867600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:103862800-103867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:103863200-103866000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:103863200-103866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:103863200-103866400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:103863200-103867600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:103863200-103867800	Weak transcription	Aorta	Aorta
41	chr14:103863200-103867800	Weak transcription	Placenta	Placenta
42	chr14:103863200-103870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:103863400-103866600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:103863600-103865600	Weak transcription	GM12878-XiMat	blood
45	chr14:103863800-103871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:103864200-103865600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr14:103864200-103865600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:103864200-103866000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr14:103864200-103866000	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:103864200-103866600	Enhancers	Brain Substantia Nigra	brain

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