Variant report

Variant	rs3766244
Chromosome Location	chr1:47026573-47026574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47022335..47026629-chr1:47028438..47032620,4	K562	blood:
2	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction
ENSG00000162456	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2273935	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28364800	0.90[AMR][1000 genomes]
rs3737734	1.00[AMR][1000 genomes]
rs3737735	1.00[AMR][1000 genomes]
rs3753358	0.90[AMR][1000 genomes]
rs3766237	1.00[AMR][1000 genomes]
rs3766238	1.00[AMR][1000 genomes]
rs3766239	1.00[AMR][1000 genomes]
rs3766242	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55849859	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56195429	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56228418	1.00[AMR][1000 genomes]
rs61734408	0.91[AMR][1000 genomes];0.87[ASN][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	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46999600-47035000	Weak transcription	Right Atrium	heart
2	chr1:47014000-47026600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:47016000-47027000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:47019600-47032800	Weak transcription	Small Intestine	intestine
11	chr1:47019800-47043600	Weak transcription	Dnd41	blood
12	chr1:47020600-47031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
15	chr1:47021200-47045000	Weak transcription	K562	blood
16	chr1:47021600-47032800	Weak transcription	GM12878-XiMat	blood
17	chr1:47021800-47054600	Weak transcription	A549	lung
18	chr1:47022000-47031400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:47022200-47043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
21	chr1:47022600-47029800	Weak transcription	NHDF-Ad	bronchial
22	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:47022600-47051600	Strong transcription	Liver	Liver
24	chr1:47023000-47034600	Strong transcription	Adipose Nuclei	Adipose
25	chr1:47023000-47039200	Strong transcription	Fetal Intestine Small	intestine
26	chr1:47023000-47044200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:47023000-47047400	Strong transcription	Primary T cells from cord blood	blood
28	chr1:47023200-47030400	Weak transcription	Psoas Muscle	Psoas
29	chr1:47023200-47031600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:47023200-47031600	Strong transcription	Gastric	stomach
31	chr1:47023200-47031800	Strong transcription	Aorta	Aorta
32	chr1:47023200-47031800	Strong transcription	Left Ventricle	heart
33	chr1:47023200-47031800	Strong transcription	Lung	lung
34	chr1:47023200-47033800	Strong transcription	Placenta	Placenta
35	chr1:47023200-47034200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:47023200-47034200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:47023200-47034400	Strong transcription	Fetal Stomach	stomach
38	chr1:47023200-47034400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:47023200-47036400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:47023200-47036600	Strong transcription	Ovary	ovary
41	chr1:47023200-47036800	Strong transcription	Pancreas	Pancrea
42	chr1:47023200-47044400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:47023200-47046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:47023200-47047200	Strong transcription	Fetal Thymus	thymus
45	chr1:47023200-47051200	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:47023200-47060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:47023400-47027000	Weak transcription	Stomach Mucosa	stomach
48	chr1:47023400-47031200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:47023400-47031800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:47023400-47034200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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