Variant report

Variant	rs941473
Chromosome Location	chr14:104201869-104201870
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104190417..104195099-chr14:104198034..104202895,6	MCF-7	breast:
2	chr14:104200638..104203848-chr14:104208638..104212508,3	MCF-7	breast:
3	chr14:104199732..104203374-chr14:104205758..104208488,4	MCF-7	breast:
4	chr14:104182025..104183554-chr14:104201618..104203977,2	MCF-7	breast:
5	chr14:104199198..104202144-chr14:104204016..104205906,2	K562	blood:
6	chr14:104196893..104198671-chr14:104201327..104203237,2	K562	blood:
7	chr14:104187861..104189972-chr14:104201127..104202685,2	MCF-7	breast:
8	chr14:104195134..104197407-chr14:104197892..104201943,5	MCF-7	breast:
9	chr14:104195030..104198558-chr14:104199394..104203156,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253096	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11160760	0.82[CEU][hapmap]
rs11160762	0.82[CEU][hapmap]
rs11623546	0.82[CEU][hapmap]
rs11624184	0.82[CEU][hapmap]
rs11627258	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11628332	0.82[CEU][hapmap]
rs11847468	0.82[CEU][hapmap]
rs12433009	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12437066	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12879501	0.82[CEU][hapmap]
rs12889993	0.82[CEU][hapmap]
rs12891175	0.82[CEU][hapmap]
rs1475007	0.82[CEU][hapmap]
rs1535097	0.82[CEU][hapmap]
rs1547604	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1955660	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2024669	0.93[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2144079	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2144080	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2223937	0.82[CEU][hapmap]
rs2295140	0.93[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295141	0.82[CEU][hapmap]
rs2295145	0.82[CEU][hapmap]
rs2295147	1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2295148	1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2295151	1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs2368558	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2368559	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2887282	0.82[CEU][hapmap]
rs3212124	1.00[YRI][hapmap]
rs3818085	0.82[CEU][hapmap]
rs4900594	0.82[CEU][hapmap]
rs4906368	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6575997	0.82[CEU][hapmap]
rs6575998	0.80[EUR][1000 genomes]
rs6576003	0.93[CEU][hapmap]
rs7141928	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147171	0.82[CEU][hapmap]
rs7156834	0.82[CEU][hapmap]
rs7159810	0.82[CEU][hapmap]
rs8003653	0.82[CEU][hapmap]
rs8004408	0.82[CEU][hapmap]
rs8005225	0.82[CEU][hapmap]
rs8009868	0.83[ASN][1000 genomes]
rs8014294	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs876002	0.82[CEU][hapmap]
rs941475	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs941473	RP11-73M18.8	cis	Artery Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
4	chr14:104189400-104203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:104190600-104202000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:104190800-104204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:104191000-104202000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:104191000-104202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:104191000-104203200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
14	chr14:104194200-104205600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:104194200-104211400	Strong transcription	Colonic Mucosa	Colon
16	chr14:104194200-104220400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr14:104194400-104208800	Strong transcription	Primary T cells from cord blood	blood
18	chr14:104194600-104206800	Strong transcription	Brain Germinal Matrix	brain
19	chr14:104194800-104209200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr14:104194800-104209200	Strong transcription	Fetal Intestine Small	intestine
21	chr14:104194800-104212000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr14:104195800-104215200	Weak transcription	HSMM	muscle
23	chr14:104196000-104214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
25	chr14:104196200-104207200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:104196800-104206600	Strong transcription	Thymus	Thymus
27	chr14:104197200-104202000	Weak transcription	Fetal Brain Male	brain
28	chr14:104197400-104202000	Strong transcription	Fetal Brain Female	brain
29	chr14:104197400-104204400	Weak transcription	HMEC	breast
30	chr14:104197400-104204600	Weak transcription	Stomach Mucosa	stomach
31	chr14:104197400-104204600	Weak transcription	K562	blood
32	chr14:104198000-104218800	Strong transcription	Gastric	stomach
33	chr14:104198200-104202000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:104198200-104204400	Genic enhancers	Esophagus	oesophagus
35	chr14:104198200-104205200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:104198200-104209000	Strong transcription	Liver	Liver
37	chr14:104198200-104224800	Strong transcription	Left Ventricle	heart
38	chr14:104198800-104202200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:104199400-104204200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:104199400-104211800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:104199600-104203800	Weak transcription	Dnd41	blood
42	chr14:104199600-104209000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:104199800-104202400	Weak transcription	Fetal Lung	lung
44	chr14:104199800-104205200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:104200000-104204400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:104200000-104204400	Weak transcription	HSMMtube	muscle
47	chr14:104200000-104220200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:104200200-104204800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:104200200-104209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:104200200-104214400	Weak transcription	Aorta	Aorta

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