Variant report

Variant	rs74075319
Chromosome Location	chr1:47023979-47023980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47023201..47026031-chr1:47173277..47176114,2	K562	blood:
2	chr1:47020490..47024344-chr1:47028257..47029934,3	K562	blood:
3	chr1:47022335..47026629-chr1:47028438..47032620,4	K562	blood:
4	chr1:47015863..47022104-chr1:47022936..47029939,8	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMBX1-2	chr1:47023897-47024014	ENSG00000235894
2	lnc-DMBX1-2	chr1:47023897-47024014	ENSG00000269956.1

No data

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction
ENSG00000162456	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56252643	1.00[AMR][1000 genomes]
rs56681125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57340896	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60664332	1.00[AMR][1000 genomes]
rs74072635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74075321	1.00[AFR][1000 genomes];1.00[AMR][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:117 , 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	chr1:47015400-47024600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:47015600-47024000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:47015600-47024200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:47015600-47025800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:47015800-47024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:47015800-47026200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:47015800-47041200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:47015800-47043400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:47016000-47025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:47016000-47025600	Weak transcription	Fetal Brain Female	brain
13	chr1:47016000-47027000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:47016000-47037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:47016200-47026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:47016200-47030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:47016400-47025600	Weak transcription	Brain Anterior Caudate	brain
18	chr1:47016800-47034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:47017600-47039800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:47017800-47024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:47019000-47026200	Weak transcription	HepG2	liver
22	chr1:47019200-47024200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:47019400-47024200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:47019600-47032800	Weak transcription	Small Intestine	intestine
25	chr1:47019800-47043600	Weak transcription	Dnd41	blood
26	chr1:47020600-47025600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:47020600-47026200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:47020600-47031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:47020800-47047400	Weak transcription	Brain Germinal Matrix	brain
30	chr1:47021000-47024200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:47021000-47025000	Weak transcription	NHLF	lung
32	chr1:47021000-47057000	Weak transcription	Fetal Brain Male	brain
33	chr1:47021200-47024200	Weak transcription	Fetal Intestine Large	intestine
34	chr1:47021200-47026400	Weak transcription	Brain Substantia Nigra	brain
35	chr1:47021200-47045000	Weak transcription	K562	blood
36	chr1:47021400-47024000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:47021600-47024400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:47021600-47026400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:47021600-47032800	Weak transcription	GM12878-XiMat	blood
40	chr1:47021800-47054600	Weak transcription	A549	lung
41	chr1:47022000-47031400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:47022200-47024000	Enhancers	HUVEC	blood vessel
43	chr1:47022200-47024200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:47022200-47043400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:47022400-47053600	Strong transcription	Thymus	Thymus
46	chr1:47022600-47024200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:47022600-47026400	Weak transcription	Osteobl	bone
48	chr1:47022600-47029800	Weak transcription	NHDF-Ad	bronchial
49	chr1:47022600-47051400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:47022600-47051600	Strong transcription	Liver	Liver

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