Variant report

Variant	rs12508085
Chromosome Location	chr4:148704296-148704297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10006193	0.93[ASN][1000 genomes]
rs10011328	0.93[ASN][1000 genomes]
rs11733543	0.80[ASN][1000 genomes]
rs11737828	0.80[ASN][1000 genomes]
rs13115978	0.93[ASN][1000 genomes]
rs4490438	0.93[ASN][1000 genomes]
rs56946313	0.93[ASN][1000 genomes]
rs59160403	0.86[ASN][1000 genomes]
rs59488354	0.86[ASN][1000 genomes]
rs6828600	0.93[ASN][1000 genomes]
rs7669809	0.93[ASN][1000 genomes]
rs7675072	0.81[ASN][1000 genomes]
rs7680867	0.80[ASN][1000 genomes]
rs7698166	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv3414867	chr4:148703352-148707250	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
4	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
6	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:148699800-148706600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:148700800-148708000	Weak transcription	Right Ventricle	heart
10	chr4:148701600-148706400	Weak transcription	Thymus	Thymus
11	chr4:148701600-148706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:148702000-148706400	Weak transcription	Fetal Thymus	thymus
14	chr4:148702000-148707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:148702000-148707400	Weak transcription	Gastric	stomach
16	chr4:148702000-148707400	Weak transcription	Psoas Muscle	Psoas
17	chr4:148702000-148707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:148702200-148707400	Weak transcription	Aorta	Aorta
24	chr4:148702200-148707400	Weak transcription	Lung	lung
25	chr4:148702200-148707400	Weak transcription	Right Atrium	heart
26	chr4:148702400-148706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:148702600-148706600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:148703400-148706400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:148703600-148707000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:148703600-148707400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:148703600-148708000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:148703600-148710200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:148703800-148706400	Weak transcription	Adipose Nuclei	Adipose
34	chr4:148703800-148706400	Weak transcription	Fetal Heart	heart
35	chr4:148703800-148706400	Weak transcription	Fetal Lung	lung
36	chr4:148703800-148706400	Weak transcription	Stomach Mucosa	stomach
37	chr4:148703800-148706400	Weak transcription	NHDF-Ad	bronchial
38	chr4:148703800-148707400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:148703800-148707400	Weak transcription	Left Ventricle	heart
40	chr4:148703800-148707400	Weak transcription	Ovary	ovary
41	chr4:148703800-148708000	Weak transcription	Small Intestine	intestine
42	chr4:148703800-148708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:148704000-148706200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:148704000-148706200	Weak transcription	GM12878-XiMat	blood
46	chr4:148704000-148706200	Weak transcription	NHEK	skin
47	chr4:148704000-148706400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:148704000-148706400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:148704000-148706400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:148704000-148706400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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