Variant report

Variant	rs6442092
Chromosome Location	chr3:48045556-48045557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48038125..48041271-chr3:48041821..48047334,6	K562	blood:
2	chr3:48045100..48046973-chr3:48052739..48054972,2	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1486916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34675858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55808934	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442093	0.83[AFR][1000 genomes]
rs6442103	1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv3335628	chr3:48010796-48074001	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48003800-48047200	Weak transcription	Lung	lung
2	chr3:48003800-48060600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:48004000-48046200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:48004000-48050600	Weak transcription	Pancreas	Pancrea
5	chr3:48013400-48053400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:48016600-48055800	Weak transcription	Esophagus	oesophagus
7	chr3:48018000-48057200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:48019400-48054800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:48027200-48063600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:48029200-48055200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:48029200-48057400	Weak transcription	Spleen	Spleen
12	chr3:48031600-48054600	Weak transcription	HUVEC	blood vessel
13	chr3:48032000-48053600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:48033200-48049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:48035400-48057400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:48036000-48049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:48036000-48052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:48036000-48057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:48037800-48048600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:48038000-48049600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:48038000-48049600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:48038000-48049600	Weak transcription	Fetal Intestine Small	intestine
23	chr3:48038000-48049600	Weak transcription	Fetal Stomach	stomach
24	chr3:48038000-48049800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:48038000-48050000	Weak transcription	Gastric	stomach
26	chr3:48038000-48050200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:48038000-48051000	Weak transcription	Right Atrium	heart
28	chr3:48038000-48053000	Weak transcription	HSMMtube	muscle
29	chr3:48038000-48054800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:48038200-48047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:48038200-48047800	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:48038200-48048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:48038200-48052800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:48038200-48053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:48038200-48053200	Weak transcription	Fetal Kidney	kidney
36	chr3:48038200-48053400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:48038200-48054200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:48038200-48054800	Weak transcription	A549	lung
39	chr3:48038200-48055200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:48038400-48047800	Weak transcription	Right Ventricle	heart
41	chr3:48038400-48054200	Weak transcription	Fetal Lung	lung
42	chr3:48038600-48050400	Weak transcription	Adipose Nuclei	Adipose
43	chr3:48038600-48053800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:48038600-48055200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:48039200-48049800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:48039400-48053600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:48039800-48053800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:48040200-48050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:48040200-48050800	Weak transcription	Primary B cells from cord blood	blood
50	chr3:48040200-48053800	Weak transcription	NHLF	lung

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