Variant report

Variant	rs6674912
Chromosome Location	chr1:227209552-227209553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1029063	0.85[ASN][1000 genomes]
rs10916076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3795454	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4653475	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8159	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9659907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1005811	chr1:227196502-227215967	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227175200-227210200	Weak transcription	HMEC	breast
3	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:227176000-227216400	Weak transcription	NHLF	lung
5	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
6	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
7	chr1:227178600-227226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:227179400-227215000	Weak transcription	Placenta	Placenta
9	chr1:227179600-227213800	Weak transcription	NH-A	brain
10	chr1:227182000-227216000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:227182800-227224200	Weak transcription	Spleen	Spleen
12	chr1:227183200-227228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
14	chr1:227184000-227214600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:227187200-227218600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:227190600-227217000	Weak transcription	Esophagus	oesophagus
18	chr1:227190600-227223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:227190600-227272600	Weak transcription	Lung	lung
20	chr1:227191200-227214400	Weak transcription	Aorta	Aorta
21	chr1:227192600-227220200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:227192800-227214200	Weak transcription	Right Ventricle	heart
23	chr1:227192800-227220200	Weak transcription	Gastric	stomach
24	chr1:227201400-227210800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:227202600-227217200	Strong transcription	Adipose Nuclei	Adipose
26	chr1:227202600-227222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
28	chr1:227204800-227214400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:227205000-227210400	Weak transcription	NHDF-Ad	bronchial
30	chr1:227205000-227210600	Strong transcription	Fetal Intestine Large	intestine
31	chr1:227205400-227216400	Weak transcription	HepG2	liver
32	chr1:227205600-227220400	Weak transcription	Stomach Mucosa	stomach
33	chr1:227205800-227210600	Strong transcription	Left Ventricle	heart
34	chr1:227206000-227210600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:227206200-227210800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:227206400-227211000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:227206600-227210800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:227206600-227211000	Strong transcription	A549	lung
39	chr1:227206600-227212800	Strong transcription	K562	blood
40	chr1:227206600-227214400	Weak transcription	Brain Angular Gyrus	brain
41	chr1:227207200-227210600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:227207400-227213800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:227207600-227210600	Strong transcription	Fetal Stomach	stomach
44	chr1:227207600-227211000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:227207600-227242000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:227207800-227210600	Strong transcription	Ovary	ovary
47	chr1:227208000-227209600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:227208000-227211000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:227208200-227209600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:227208200-227210000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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