Variant report

Variant	rs17104527
Chromosome Location	chr14:68112034-68112035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68111830-68112638	A549	lung:	n/a	n/a
2	POLR2A	chr14:68112032-68112261	K562	blood:	n/a	n/a
3	POLR2A	chr14:68111906-68112077	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr14:68111795-68112133	HepG2	liver:	n/a	n/a
5	NFATC1	chr14:68112013-68112390	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:68111987-68112596	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:68111839-68112742	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr14:68111870-68112648	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:68111755-68121472	K562	blood:	n/a	n/a
10	POLR2A	chr14:68111738-68112159	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10525614	1.00[AMR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902492	1.00[EUR][1000 genomes]
rs4902510	1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[EUR][1000 genomes]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[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	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
2	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
4	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
6	chr14:68089400-68112200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
8	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:68090200-68112200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:68090200-68112400	Weak transcription	Brain Anterior Caudate	brain
13	chr14:68090400-68112200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:68090800-68112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:68091800-68112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:68092000-68112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:68096600-68112400	Weak transcription	HepG2	liver
19	chr14:68100000-68112200	Weak transcription	Pancreas	Pancrea
20	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:68100800-68112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:68100800-68112200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:68101800-68112200	Weak transcription	Placenta	Placenta
25	chr14:68102000-68112200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:68103400-68112800	Weak transcription	HSMMtube	muscle
27	chr14:68103600-68112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:68103600-68112200	Weak transcription	Primary T cells from cord blood	blood
29	chr14:68103600-68112400	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:68103800-68112200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:68105800-68112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:68105800-68112800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:68106000-68113200	Weak transcription	Psoas Muscle	Psoas
34	chr14:68106000-68114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:68106200-68112400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:68106800-68113000	Weak transcription	NH-A	brain
37	chr14:68107600-68112200	Weak transcription	Thymus	Thymus
38	chr14:68107600-68115400	Weak transcription	NHLF	lung
39	chr14:68108400-68112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:68108400-68112400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:68108600-68115600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:68108800-68112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:68109000-68113200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
46	chr14:68109200-68112400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:68109200-68115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:68109400-68112400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:68109400-68112400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:68109400-68112400	Weak transcription	Duodenum Mucosa	Duodenum

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