Variant report

Variant	rs17055831
Chromosome Location	chr6:128730645-128730646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128723942..128726206-chr6:128727564..128731727,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17053277	0.83[YRI][hapmap]
rs17055782	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17055830	0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs17055837	0.81[AFR][1000 genomes]
rs17055841	0.84[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17055850	0.89[LWK][hapmap];0.85[MKK][hapmap]
rs17055886	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs4352700	0.89[LWK][hapmap];0.85[MKK][hapmap]
rs4587184	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6939303	1.00[LWK][hapmap];0.94[MKK][hapmap]
rs7774852	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
2	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
3	chr6:128697800-128733400	Weak transcription	HSMM	muscle
4	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:128703200-128743000	Weak transcription	Pancreas	Pancrea
6	chr6:128706800-128731800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:128710200-128739800	Weak transcription	Fetal Intestine Large	intestine
8	chr6:128712000-128731800	Weak transcription	HUVEC	blood vessel
9	chr6:128712000-128733800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:128712800-128733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:128715600-128733600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:128715600-128743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:128715800-128736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:128716600-128736000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:128716600-128739400	Weak transcription	Aorta	Aorta
16	chr6:128716800-128738400	Weak transcription	Fetal Heart	heart
17	chr6:128717200-128739600	Weak transcription	NH-A	brain
18	chr6:128721800-128733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:128722000-128738600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:128722400-128732000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:128722400-128740000	Weak transcription	Right Ventricle	heart
22	chr6:128724200-128733600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:128726200-128733800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:128726600-128733600	Weak transcription	NHEK	skin
25	chr6:128728000-128736000	Weak transcription	Fetal Kidney	kidney
26	chr6:128728200-128739000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:128728400-128731600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:128728400-128738800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:128728600-128731200	Weak transcription	HSMMtube	muscle
30	chr6:128728600-128731800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:128728600-128739400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:128728600-128742800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:128728800-128736200	Weak transcription	HepG2	liver
34	chr6:128728800-128748000	Weak transcription	Ovary	ovary
35	chr6:128729800-128732400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:128730400-128731000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:128730600-128732200	Enhancers	Osteobl	bone

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