Variant report

Variant	rs73454490
Chromosome Location	chr13:30690219-30690220
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30689194..30691299-chr13:30696452..30698373,2	K562	blood:
2	chr13:30421278..30427133-chr13:30682148..30691157,22	MCF-7	breast:
3	chr13:30681624..30684735-chr13:30687394..30690983,4	MCF-7	breast:
4	chr13:30422658..30425963-chr13:30681369..30690318,16	MCF-7	breast:
5	chr13:30403000..30404793-chr13:30686519..30690620,3	MCF-7	breast:
6	chr13:30687723..30690408-chr13:30699734..30701487,2	MCF-7	breast:
7	chr13:30081296..30083385-chr13:30689063..30690673,2	MCF-7	breast:
8	chr13:30651986..30653783-chr13:30687863..30690496,2	MCF-7	breast:
9	chr13:30618914..30621589-chr13:30687239..30690336,3	MCF-7	breast:
10	chr13:30415961..30419397-chr13:30686617..30690558,4	MCF-7	breast:
11	chr13:30416529..30418789-chr13:30687600..30690547,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction
ENSG00000224511	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs542730	1.00[EUR][1000 genomes]
rs57613215	1.00[EUR][1000 genomes]
rs61064633	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30688200-30690400	Enhancers	Fetal Heart	heart
2	chr13:30689400-30690400	Weak transcription	Gastric	stomach
3	chr13:30689400-30692600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:30689600-30690400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:30689600-30690400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:30689600-30690400	Weak transcription	Left Ventricle	heart
7	chr13:30689600-30690800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30689600-30690800	Enhancers	Brain Germinal Matrix	brain
9	chr13:30689600-30690800	Enhancers	Fetal Muscle Leg	muscle
10	chr13:30689600-30690800	Enhancers	Pancreas	Pancrea
11	chr13:30689600-30690800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr13:30689600-30690800	Enhancers	Stomach Mucosa	stomach
13	chr13:30689600-30692200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:30689600-30692400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:30689600-30692400	Weak transcription	Primary T cells from cord blood	blood
16	chr13:30689600-30692400	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:30689600-30692600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:30689600-30692600	Weak transcription	Thymus	Thymus
19	chr13:30689600-30692800	Weak transcription	Fetal Thymus	thymus
20	chr13:30689600-30692800	Weak transcription	HMEC	breast
21	chr13:30689600-30693000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:30689600-30693000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:30689600-30693000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr13:30689600-30693200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:30689600-30693200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:30689600-30693200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:30689600-30693200	Weak transcription	HSMM	muscle
28	chr13:30689600-30693400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr13:30689600-30693400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:30689600-30693400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr13:30689600-30693400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr13:30689600-30693400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr13:30689600-30693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:30689600-30693400	Weak transcription	Fetal Intestine Small	intestine
35	chr13:30689600-30693400	Weak transcription	HSMMtube	muscle
36	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
39	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
40	chr13:30689800-30690400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:30689800-30690400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:30689800-30690400	Enhancers	Psoas Muscle	Psoas
43	chr13:30689800-30690800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:30689800-30690800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:30689800-30690800	Enhancers	GM12878-XiMat	blood
46	chr13:30689800-30691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:30689800-30692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:30689800-30693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:30689800-30693400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:30689800-30693400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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