Variant report

Variant	rs13195312
Chromosome Location	chr6:80716232-80716233
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11446289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13190687	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13197924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13198886	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13201977	1.00[CEU][hapmap]
rs13207785	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13210539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13211239	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13216126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13219055	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2230513	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34038612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34239525	1.00[AMR][1000 genomes]
rs34566095	1.00[AMR][1000 genomes]
rs34666876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35302124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36122081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71539129	1.00[AMR][1000 genomes]
rs71565063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565067	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv5370	chr6:80715351-80751740	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80713400-80717200	Active TSS	Thymus	Thymus
2	chr6:80713800-80716600	Active TSS	Fetal Thymus	thymus
3	chr6:80714000-80716800	Active TSS	GM12878-XiMat	blood
4	chr6:80714800-80738800	Weak transcription	Small Intestine	intestine
5	chr6:80715000-80717400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:80715000-80718600	Weak transcription	Fetal Brain Male	brain
7	chr6:80715000-80730400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:80715000-80748000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:80715000-80752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:80715000-80752400	Weak transcription	Placenta	Placenta
11	chr6:80715200-80718400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:80715200-80718800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:80715200-80721200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:80715200-80726000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:80715200-80727000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:80715200-80730800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:80715200-80734000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:80715200-80734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:80715200-80739200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:80715200-80749600	Weak transcription	Fetal Intestine Small	intestine
21	chr6:80715200-80752000	Weak transcription	Primary B cells from cord blood	blood
22	chr6:80715200-80752200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:80715400-80717000	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr6:80715400-80718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:80715400-80721200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:80715400-80721200	Weak transcription	Fetal Kidney	kidney
27	chr6:80715400-80722600	Weak transcription	Fetal Intestine Large	intestine
28	chr6:80715400-80726000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:80715400-80727000	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:80715400-80729400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:80715400-80742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:80715400-80743200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:80715400-80745400	Weak transcription	Fetal Lung	lung
34	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:80715600-80716400	Weak transcription	Fetal Brain Female	brain
37	chr6:80715600-80716400	Genic enhancers	HSMM	muscle
38	chr6:80715600-80716600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:80715600-80717000	Enhancers	HepG2	liver
40	chr6:80715600-80717400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr6:80715600-80718000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:80715600-80720200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:80715600-80721200	Weak transcription	Osteobl	bone
44	chr6:80715600-80724600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:80715600-80725200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:80715600-80739200	Weak transcription	Fetal Stomach	stomach
47	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:80715800-80716400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:80715800-80717600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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