Variant report

Variant	rs6576003
Chromosome Location	chr14:104291330-104291331
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104290133..104291870-chr14:104313637..104315830,2	MCF-7	breast:
2	chr14:104290311..104292684-chr14:104319761..104322144,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1040813	0.86[CEU][hapmap]
rs11160759	0.86[CEU][hapmap]
rs11160760	0.89[CEU][hapmap]
rs11160762	0.89[CEU][hapmap]
rs11160766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1155751	0.86[CEU][hapmap]
rs11623546	0.89[CEU][hapmap]
rs11624184	0.89[CEU][hapmap]
rs11625740	0.85[CEU][hapmap]
rs11626377	0.86[CEU][hapmap]
rs11627258	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11628332	0.89[CEU][hapmap]
rs11628787	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11847468	0.89[CEU][hapmap]
rs1187416	0.86[CEU][hapmap]
rs12437066	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879501	0.89[CEU][hapmap]
rs12880821	0.86[CEU][hapmap]
rs12885018	0.86[CEU][hapmap]
rs12889993	0.89[CEU][hapmap]
rs12891175	0.89[CEU][hapmap]
rs12894254	0.81[EUR][1000 genomes]
rs1475007	0.89[CEU][hapmap]
rs1535097	0.89[CEU][hapmap]
rs1535098	0.85[CEU][hapmap]
rs1547604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1955660	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1997913	0.85[CEU][hapmap]
rs2006281	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2024669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2144079	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2144080	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2223937	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2295140	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2295141	0.89[CEU][hapmap]
rs2295145	0.89[CEU][hapmap]
rs2295147	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs2295148	0.85[CEU][hapmap];0.95[CHB][hapmap]
rs2295151	0.85[CEU][hapmap];0.96[CHB][hapmap]
rs2368558	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2368559	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2368560	0.86[CEU][hapmap]
rs2887282	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs3818085	0.89[CEU][hapmap]
rs4900594	0.89[CEU][hapmap]
rs4900600	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs4906365	0.86[CEU][hapmap]
rs4906368	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575997	0.89[CEU][hapmap]
rs6575998	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6576005	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67478160	0.97[ASN][1000 genomes]
rs7141928	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147171	0.89[CEU][hapmap]
rs7156834	0.86[CEU][hapmap]
rs7159810	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs8003653	0.89[CEU][hapmap]
rs8004408	0.89[CEU][hapmap]
rs8005225	0.89[CEU][hapmap]
rs8005594	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs8009868	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011109	0.80[EUR][1000 genomes]
rs8014294	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8015603	0.81[EUR][1000 genomes]
rs8016014	0.86[CEU][hapmap]
rs8018062	0.81[EUR][1000 genomes]
rs8018363	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876002	0.89[CEU][hapmap]
rs941473	0.93[CEU][hapmap]
rs941474	0.82[CEU][hapmap]
rs941475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	nsv902320	chr14:104274294-104308095	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104280800-104294800	Weak transcription	Small Intestine	intestine
2	chr14:104286200-104294800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:104286600-104291400	Weak transcription	Fetal Intestine Large	intestine
4	chr14:104286600-104294800	Weak transcription	Brain Angular Gyrus	brain
5	chr14:104286600-104303400	Weak transcription	Spleen	Spleen
6	chr14:104287000-104294800	Weak transcription	Adipose Nuclei	Adipose
7	chr14:104287200-104291400	Weak transcription	Fetal Intestine Small	intestine
8	chr14:104287200-104291400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:104287200-104294800	Weak transcription	Ovary	ovary
10	chr14:104287200-104294800	Weak transcription	Right Ventricle	heart
11	chr14:104287400-104291400	Weak transcription	Fetal Kidney	kidney
12	chr14:104287600-104294800	Weak transcription	Fetal Lung	lung
13	chr14:104288000-104292400	Weak transcription	Left Ventricle	heart
14	chr14:104289200-104292800	Enhancers	Fetal Heart	heart
15	chr14:104290000-104294400	Weak transcription	Right Atrium	heart
16	chr14:104290600-104291800	Enhancers	Pancreas	Pancrea
17	chr14:104291000-104292000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:104291000-104292200	Enhancers	HepG2	liver
19	chr14:104291200-104291400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr14:104291200-104291600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:104291200-104291600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr14:104291200-104292000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr14:104291200-104292200	Enhancers	Stomach Mucosa	stomach
24	chr14:104291200-104292800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:104291200-104292800	Enhancers	A549	lung
26	chr14:104291200-104293000	Enhancers	Liver	Liver

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