Variant report

Variant	rs1321813
Chromosome Location	chr6:117828291-117828292
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117803526..117806489-chr6:117828214..117832875,5	MCF-7	breast:
2	chr6:117826330..117829186-chr6:117866994..117868994,2	MCF-7	breast:
3	chr6:117824792..117827536-chr6:117828265..117831090,2	K562	blood:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1015130	0.85[CEU][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs210608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210610	0.80[YRI][hapmap]
rs210612	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210614	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210615	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs210646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210647	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210649	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210651	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9766914	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
2	chr6:117816400-117828600	Weak transcription	K562	blood
3	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:117818400-117833600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:117819800-117831600	Weak transcription	Hela-S3	cervix
6	chr6:117819800-117834200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
8	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:117821800-117843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:117823200-117868800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:117823200-117869600	Weak transcription	Small Intestine	intestine
12	chr6:117823600-117830800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:117825200-117828400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:117825400-117829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:117825400-117833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:117825800-117828400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:117826200-117830000	Enhancers	A549	lung
18	chr6:117826200-117842600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:117826200-117844800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr6:117826400-117828400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:117826400-117828400	Enhancers	NHLF	lung
22	chr6:117826400-117859800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:117826600-117833400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:117826800-117828400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:117826800-117828800	Genic enhancers	HSMM	muscle
26	chr6:117826800-117829800	Weak transcription	Fetal Intestine Small	intestine
27	chr6:117827000-117829800	Weak transcription	Pancreas	Pancrea
28	chr6:117827000-117834200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:117827200-117829400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:117827200-117829400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:117827200-117841600	Weak transcription	Adipose Nuclei	Adipose
32	chr6:117827400-117829000	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr6:117827400-117829600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:117827600-117828400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:117827600-117829000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:117827600-117829000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:117827600-117829000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:117827600-117829200	Enhancers	Osteobl	bone
39	chr6:117827600-117829400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:117827600-117829800	Enhancers	HepG2	liver
41	chr6:117827600-117851200	Weak transcription	Lung	lung
42	chr6:117827800-117828600	Enhancers	Brain Hippocampus Middle	brain
43	chr6:117827800-117831200	Weak transcription	GM12878-XiMat	blood
44	chr6:117828000-117828400	Enhancers	HSMMtube	muscle
45	chr6:117828000-117828800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:117828000-117829000	Weak transcription	Fetal Intestine Large	intestine
47	chr6:117828000-117829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:117828000-117829600	Weak transcription	NHEK	skin
49	chr6:117828000-117829800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:117828000-117829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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