Variant report

Variant	rs35441914
Chromosome Location	chr15:100223189-100223190
allele	A/G
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	FOS	chr15:100222747-100223762	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr15:100223157-100223592	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr15:100222940-100223776	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr15:100223009-100223805	HUVEC	blood vessel:	n/a	n/a
5	GATA2	chr15:100223156-100223908	HUVEC	blood vessel:	n/a	chr15:100223444-100223454 chr15:100223375-100223385
6	RUNX3	chr15:100223175-100223641	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:100223181-100223550	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr15:100223111-100223798	HUVEC	blood vessel:	n/a	n/a
9	JUN	chr15:100222686-100223732	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:100220233..100222565-chr15:100222577..100224923,2	MCF-7	breast:
2	chr15:100104936..100107605-chr15:100221549..100224496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201724	TF binding region
ENSG00000068305	Chromatin interaction
ENSG00000201724	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1019974	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11247119	0.88[EUR][1000 genomes]
rs12592092	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593522	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12593785	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12595285	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12901291	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12912791	0.95[ASN][1000 genomes]
rs12916000	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs167805	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs170521	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170522	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs188977	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs191256	0.84[EUR][1000 genomes]
rs2033546	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2117309	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2570807	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2570808	0.97[ASN][1000 genomes]
rs2570816	0.95[ASN][1000 genomes]
rs2581467	0.83[EUR][1000 genomes]
rs2581470	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2581472	0.83[EUR][1000 genomes]
rs2862869	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2862870	0.89[EUR][1000 genomes]
rs28712314	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2902349	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs325390	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325392	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325394	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs325404	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs325409	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325410	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325413	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34443706	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34756251	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34779575	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34981499	0.96[ASN][1000 genomes]
rs35410986	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3730281	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4965529	0.87[ASN][1000 genomes]
rs4965532	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73482408	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7496677	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs897073	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1038005	chr15:100170414-100633714	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542522	chr15:100170414-100633714	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv904559	chr15:100174907-100255046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv904560	chr15:100196657-100339331	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv904561	chr15:100204918-100486828	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv904562	chr15:100214935-100237682	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100159000-100253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100171200-100232800	Weak transcription	Esophagus	oesophagus
3	chr15:100171200-100248800	Weak transcription	Gastric	stomach
4	chr15:100172000-100230800	Weak transcription	Stomach Mucosa	stomach
5	chr15:100179200-100232600	Weak transcription	Colonic Mucosa	Colon
6	chr15:100181800-100232800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:100192000-100230400	Weak transcription	NHLF	lung
8	chr15:100193000-100229000	Weak transcription	Lung	lung
9	chr15:100199800-100232600	Weak transcription	Right Ventricle	heart
10	chr15:100209800-100224400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:100209800-100232800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:100210800-100223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:100211800-100232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:100212800-100223800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:100212800-100240000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr15:100213000-100232600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:100213200-100250800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:100213400-100226400	Weak transcription	Fetal Brain Male	brain
19	chr15:100213400-100232600	Weak transcription	Pancreas	Pancrea
20	chr15:100213600-100243400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:100214400-100223200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:100214400-100223400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:100214400-100224200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr15:100215000-100224600	Strong transcription	Liver	Liver
25	chr15:100215600-100226400	Weak transcription	HepG2	liver
26	chr15:100215800-100223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr15:100215800-100230800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:100216000-100223800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:100216000-100224600	Weak transcription	Brain Germinal Matrix	brain
30	chr15:100216000-100224600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:100216200-100226400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:100216200-100229800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:100216200-100230200	Weak transcription	HMEC	breast
34	chr15:100216200-100232600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:100216200-100233000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:100216400-100229600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:100216800-100230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:100216800-100230400	Weak transcription	Placenta	Placenta
39	chr15:100216800-100232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr15:100217000-100232800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:100217200-100227200	Weak transcription	Fetal Stomach	stomach
42	chr15:100217400-100232600	Weak transcription	Fetal Intestine Small	intestine
43	chr15:100218000-100223200	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:100218000-100230400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:100218200-100226200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:100218200-100232600	Weak transcription	Hela-S3	cervix
47	chr15:100218200-100232800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:100218800-100223200	Strong transcription	GM12878-XiMat	blood
49	chr15:100219400-100223400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:100219400-100224400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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