Variant report

Variant	rs10043932
Chromosome Location	chr5:146784478-146784479
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	chr5:146783928-146784611	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr5:146784409-146784638	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr5:146784468-146784482	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:146782857-146784916	IMR90	lung:	n/a	n/a
5	JUND	chr5:146782708-146784664	SK-N-SH	brain:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
6	POLR2A	chr5:146783239-146787438	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr5:146783589-146784615	GM12878	blood:	n/a	chr5:146783748-146783757 chr5:146784229-146784243 chr5:146783749-146783758
8	NFYB	chr5:146784097-146784679	GM12878	blood:	n/a	n/a
9	BHLHE40	chr5:146783708-146784651	GM12878	blood:	n/a	n/a
10	USF2	chr5:146783823-146784605	GM12878	blood:	n/a	chr5:146784512-146784523
11	MEF2A	chr5:146783427-146784505	SK-N-SH	brain:	n/a	chr5:146783976-146783990 chr5:146783974-146783995 chr5:146783978-146783989 chr5:146783975-146783991 chr5:146783979-146783988 chr5:146783976-146783991 chr5:146783974-146783995 chr5:146783974-146783995
12	POLR2A	chr5:146783922-146784769	H1-neurons	neurons:	n/a	n/a
13	USF2	chr5:146784429-146784597	Hela-S3	cervix:	n/a	chr5:146784512-146784523
14	POLR2A	chr5:146784258-146784565	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:146783856-146784572	GM12878	blood:	n/a	n/a
16	TCF12	chr5:146783440-146784515	SK-N-SH	brain:	n/a	n/a
17	MAX	chr5:146783355-146784501	HCT-116	colon:	n/a	chr5:146783748-146783757
18	TBP	chr5:146783892-146784535	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
DPYSL3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10042298	1.00[CEU][hapmap]
rs10045916	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10476887	1.00[CEU][hapmap]
rs11952440	1.00[CEU][hapmap]
rs11955404	1.00[CEU][hapmap]
rs12657083	1.00[CEU][hapmap]
rs1432852	1.00[CEU][hapmap]
rs1549915	1.00[CEU][hapmap]
rs17096661	1.00[CEU][hapmap]
rs17106725	1.00[CEU][hapmap]
rs2163767	1.00[CEU][hapmap]
rs3792839	1.00[CEU][hapmap]
rs6886313	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891468	1.00[CEU][hapmap]
rs6897123	1.00[CEU][hapmap]
rs7737670	1.00[CEU][hapmap]

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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146767800-146796600	Strong transcription	Brain Germinal Matrix	brain
2	chr5:146769400-146800600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:146770000-146800600	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr5:146770200-146784800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:146770200-146805200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:146770400-146796600	Strong transcription	Fetal Brain Female	brain
9	chr5:146770400-146800600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:146770600-146798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:146770600-146800400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:146771600-146786600	Weak transcription	Gastric	stomach
13	chr5:146772800-146795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:146773600-146788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:146773600-146800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:146774000-146799400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:146774200-146796800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:146775400-146797000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:146776200-146796000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:146777600-146796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:146777600-146800600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr5:146777800-146790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:146778800-146785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:146779800-146798400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:146780200-146784600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:146780400-146796800	Weak transcription	Spleen	Spleen
27	chr5:146780800-146796600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:146781400-146784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:146782400-146784800	Enhancers	Aorta	Aorta
30	chr5:146782400-146784800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:146782400-146790600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:146782600-146784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:146782600-146785400	Enhancers	HUVEC	blood vessel
34	chr5:146782800-146791800	Enhancers	Fetal Heart	heart
35	chr5:146783000-146785400	Genic enhancers	Fetal Muscle Leg	muscle
36	chr5:146783200-146784600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:146783200-146784600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:146783200-146784600	Enhancers	Placenta	Placenta
39	chr5:146783200-146784800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr5:146783200-146785000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:146783200-146785400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:146783200-146786800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:146783400-146784600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:146783400-146784600	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr5:146783400-146784600	Enhancers	Pancreas	Pancrea
46	chr5:146783400-146784600	Enhancers	GM12878-XiMat	blood
47	chr5:146783400-146784600	Enhancers	HMEC	breast
48	chr5:146783400-146784800	Genic enhancers	Fetal Stomach	stomach
49	chr5:146783400-146785000	Enhancers	Left Ventricle	heart
50	chr5:146783400-146785000	Enhancers	Skeletal Muscle Female	skeletal muscle

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