Variant report

Variant	rs12197797
Chromosome Location	chr6:121763963-121763964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10456939	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456940	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759917	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11961755	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347370	0.90[AMR][1000 genomes];0.91[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	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3429176	chr6:121756880-121768144	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121756200-121764200	Active TSS	Right Atrium	heart
2	chr6:121759600-121768000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:121759800-121764800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:121759800-121765000	Weak transcription	HSMM	muscle
5	chr6:121759800-121767600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:121759800-121767600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:121759800-121767600	Weak transcription	Fetal Stomach	stomach
8	chr6:121759800-121767800	Weak transcription	Placenta	Placenta
9	chr6:121759800-121768000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:121759800-121769400	Weak transcription	Fetal Kidney	kidney
11	chr6:121760400-121767200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:121760600-121764200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:121761000-121765200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:121761000-121767800	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:121761000-121768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:121761200-121764800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:121761600-121767600	Weak transcription	Fetal Intestine Large	intestine
18	chr6:121761600-121768200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:121761800-121764600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:121762400-121764200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:121762400-121764200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
22	chr6:121762400-121764200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:121762400-121764200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
24	chr6:121762400-121764200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:121762400-121765600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
26	chr6:121762400-121765800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
27	chr6:121762400-121765800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:121762400-121766000	Transcr. at gene 5' and 3'	Fetal Heart	heart
29	chr6:121762400-121768200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:121762400-121768200	Enhancers	HMEC	breast
31	chr6:121762600-121764200	Transcr. at gene 5' and 3'	Osteobl	bone
32	chr6:121762600-121765600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
33	chr6:121762600-121765800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:121762800-121764000	Enhancers	Small Intestine	intestine
35	chr6:121762800-121764200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:121762800-121764200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
37	chr6:121762800-121764400	Enhancers	Fetal Lung	lung
38	chr6:121762800-121764600	Active TSS	Brain Hippocampus Middle	brain
39	chr6:121762800-121767000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:121763000-121764200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:121763000-121764200	Enhancers	Adipose Nuclei	Adipose
42	chr6:121763000-121764200	Enhancers	Ovary	ovary
43	chr6:121763000-121764600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:121763000-121765200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:121763000-121765600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:121763000-121766000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:121763000-121766000	Enhancers	NHEK	skin
48	chr6:121763000-121766600	Genic enhancers	H1 Cell Line	embryonic stem cell
49	chr6:121763000-121768000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:121763000-121768000	Weak transcription	Lung	lung

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