Variant report

Variant	rs6867278
Chromosome Location	chr5:60588572-60588573
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60586340..60593423-chr5:60595007..60600646,11	MCF-7	breast:
2	chr5:60588266..60590443-chr5:60596275..60598423,2	MCF-7	breast:
3	chr5:60586331..60590191-chr5:60626187..60629992,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10939897	0.84[CEU][hapmap]
rs11743133	0.81[EUR][1000 genomes]
rs11747144	0.86[CEU][hapmap]
rs13154663	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs13162866	0.88[CEU][hapmap]
rs13164720	0.88[CEU][hapmap]
rs13171223	0.81[EUR][1000 genomes]
rs4132385	0.81[ASN][1000 genomes]
rs4235486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4391122	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4421060	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4513641	0.87[CEU][hapmap]
rs4544785	0.81[CEU][hapmap]
rs4546329	0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4583848	0.95[ASN][1000 genomes]
rs6449525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449526	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449527	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860599	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870349	0.81[CEU][hapmap]
rs6889338	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
2	chr5:60576600-60588800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:60585400-60589400	Enhancers	Pancreas	Pancrea
4	chr5:60585600-60588800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:60585800-60588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:60586000-60588800	Weak transcription	Lung	lung
7	chr5:60586400-60589600	Enhancers	Stomach Mucosa	stomach
8	chr5:60586600-60589400	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:60586600-60589400	Enhancers	Fetal Intestine Large	intestine
10	chr5:60586600-60590400	Enhancers	Fetal Intestine Small	intestine
11	chr5:60587000-60588800	Weak transcription	Small Intestine	intestine
12	chr5:60587000-60588800	Weak transcription	NHEK	skin
13	chr5:60587000-60594000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:60587000-60594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:60587000-60595200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:60587000-60597400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:60587200-60593800	Weak transcription	A549	lung
18	chr5:60587200-60594000	Weak transcription	NHDF-Ad	bronchial
19	chr5:60587200-60595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:60587200-60597200	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:60587200-60597400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:60587400-60588600	Weak transcription	Hela-S3	cervix
23	chr5:60587400-60588800	Weak transcription	Brain Anterior Caudate	brain
24	chr5:60587400-60588800	Weak transcription	Colonic Mucosa	Colon
25	chr5:60587400-60588800	Weak transcription	Esophagus	oesophagus
26	chr5:60587400-60588800	Weak transcription	Gastric	stomach
27	chr5:60587400-60588800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:60587400-60589000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:60587400-60589000	Weak transcription	Ovary	ovary
30	chr5:60587400-60591800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:60587400-60591800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:60587400-60594200	Weak transcription	Osteobl	bone
33	chr5:60587400-60594400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:60587400-60594600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:60587400-60595200	Weak transcription	HSMM	muscle
36	chr5:60587600-60588600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:60587600-60588600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:60587600-60591600	Weak transcription	NHLF	lung
39	chr5:60587800-60588600	Weak transcription	Fetal Brain Male	brain
40	chr5:60588200-60588800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:60588200-60589200	Enhancers	Adipose Nuclei	Adipose
42	chr5:60588200-60589200	Weak transcription	Fetal Kidney	kidney
43	chr5:60588200-60591400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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