Variant report

Variant	rs946348
Chromosome Location	chr6:131377029-131377030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1412540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1977578	0.82[EUR][1000 genomes]
rs1984054	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2327005	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4897479	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6902768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6932317	0.82[EUR][1000 genomes]
rs7746714	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9388877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9388881	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9402307	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9402312	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9483203	0.80[AMR][1000 genomes];0.82[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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131373400-131381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131373800-131377400	ZNF genes & repeats	Fetal Muscle Leg	muscle
3	chr6:131374000-131377600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:131374400-131378200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:131374600-131377200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr6:131374600-131377400	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr6:131374600-131378000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:131374600-131378000	ZNF genes & repeats	A549	lung
9	chr6:131374800-131377200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr6:131374800-131377200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr6:131374800-131377600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr6:131374800-131378000	ZNF genes & repeats	Dnd41	blood
13	chr6:131374800-131378000	ZNF genes & repeats	HepG2	liver
14	chr6:131374800-131378800	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr6:131375000-131377200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:131375000-131377400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:131375000-131378000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:131375200-131377400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr6:131375600-131380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:131375800-131382400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:131376000-131382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:131376200-131379200	Weak transcription	Osteobl	bone
23	chr6:131376400-131380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:131376400-131380600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:131376400-131380600	Weak transcription	Fetal Stomach	stomach
26	chr6:131376400-131381800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:131376600-131378800	Weak transcription	Brain Substantia Nigra	brain
28	chr6:131376800-131377200	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr6:131376800-131380800	Weak transcription	NHLF	lung
30	chr6:131377000-131377200	ZNF genes & repeats	Colon Smooth Muscle	Colon
31	chr6:131377000-131377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:131377000-131380600	Weak transcription	NHDF-Ad	bronchial
33	chr6:131377000-131381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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