Variant report

Variant	rs9379997
Chromosome Location	chr6:27599191-27599192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1010261	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12174918	0.80[AMR][1000 genomes]
rs16867962	1.00[CEU][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs17693877	0.85[JPT][hapmap]
rs2394001	0.80[AMR][1000 genomes]
rs4711158	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4711161	0.83[AMR][1000 genomes]
rs4713116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713117	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4713122	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs4713124	0.80[AMR][1000 genomes]
rs56911191	0.84[AMR][1000 genomes]
rs58322250	0.93[ASN][1000 genomes]
rs58727692	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59015666	0.80[AMR][1000 genomes]
rs7742887	0.93[ASN][1000 genomes]
rs7773905	0.93[ASN][1000 genomes]
rs9295738	0.88[ASN][1000 genomes]
rs9357041	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9368515	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9368516	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9379987	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9379988	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs9379989	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9379991	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9379993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9380009	0.80[AMR][1000 genomes]
rs9380013	0.80[AMR][1000 genomes]
rs9380015	0.80[AMR][1000 genomes]
rs9393825	0.83[AMR][1000 genomes]
rs9393829	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9393845	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9393854	1.00[CEU][hapmap]
rs9468183	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
10	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27598000-27599600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:27598000-27599600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27598000-27599600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:27598200-27599200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:27598200-27599200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:27598200-27599400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:27598200-27599600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:27598200-27599600	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr6:27598400-27599200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:27598400-27599200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:27598400-27599200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:27598400-27599200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr6:27598400-27599200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:27598400-27599200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr6:27598400-27599200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
16	chr6:27598400-27599200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
17	chr6:27598400-27599200	Enhancers	Gastric	stomach
18	chr6:27598400-27599200	Active TSS	A549	lung
19	chr6:27598400-27599200	Active TSS	HSMMtube	muscle
20	chr6:27598400-27599200	Flanking Active TSS	HUVEC	blood vessel
21	chr6:27598400-27599200	Active TSS	NH-A	brain
22	chr6:27598400-27599200	Active TSS	Osteobl	bone
23	chr6:27598400-27599400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:27598400-27599400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:27598400-27599400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:27598400-27599400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr6:27598400-27599400	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr6:27598400-27599600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:27598400-27599600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:27598400-27599800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:27598400-27599800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:27598600-27599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:27598600-27599200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:27598600-27599200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:27598600-27599200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:27598600-27599200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
38	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr6:27598600-27599200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:27598600-27599200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:27598600-27599200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr6:27598600-27599200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr6:27598600-27599200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr6:27598600-27599200	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr6:27598600-27599200	Bivalent Enhancer	Lung	lung
50	chr6:27598600-27599200	Bivalent/Poised TSS	Psoas Muscle	Psoas

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