Variant report

Variant	rs28446212
Chromosome Location	chr4:166168805-166168806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11722307	0.84[ASN][1000 genomes]
rs11722313	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11726821	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11730744	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11730816	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11733838	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11734199	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17009130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34274617	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34962116	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55951309	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56246670	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56919208	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57645545	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59089770	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59229716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59263314	0.84[ASN][1000 genomes]
rs59639455	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60197231	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60459687	0.84[ASN][1000 genomes]
rs60905916	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72993964	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72993975	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72995922	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72995990	0.84[ASN][1000 genomes]
rs72995992	0.84[ASN][1000 genomes]
rs73860621	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73860622	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73875268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv966337	chr4:166157947-166176361	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:166130600-166200800	Weak transcription	Lung	lung
4	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
6	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:166144000-166176000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:166144800-166176200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:166147000-166176400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:166151200-166176000	Weak transcription	Dnd41	blood
15	chr4:166152000-166176600	Weak transcription	Fetal Stomach	stomach
16	chr4:166152200-166169400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:166154000-166169200	Weak transcription	HUVEC	blood vessel
18	chr4:166156200-166199200	Weak transcription	Ovary	ovary
19	chr4:166159200-166169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:166159400-166173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:166159400-166175800	Weak transcription	GM12878-XiMat	blood
22	chr4:166159800-166170400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:166159800-166176000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:166160000-166169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:166161200-166169000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:166161200-166176800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:166161600-166169800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:166161600-166176400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:166162200-166170400	Weak transcription	NHEK	skin
30	chr4:166162800-166169400	Weak transcription	HMEC	breast
31	chr4:166163000-166169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:166166000-166169000	Weak transcription	Primary B cells from cord blood	blood
33	chr4:166166600-166169200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:166166600-166169400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:166167200-166169000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr4:166167400-166177000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:166167800-166169000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:166168400-166170200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:166168400-166170400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr4:166168800-166169000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr4:166168800-166169400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:166168800-166169800	Enhancers	Primary T cells from cord blood	blood
43	chr4:166168800-166170000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:166168800-166170400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr4:166168800-166170600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr4:166168800-166170600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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