Variant report

Variant	rs73118068
Chromosome Location	chr1:224516716-224516717
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224515424..224519366-chr1:224544067..224546170,3	K562	blood:
2	chr1:223899719..223902673-chr1:224516675..224518721,2	K562	blood:
3	chr1:224514132..224518075-chr1:224542843..224545822,3	K562	blood:
4	chr1:224516510..224520785-chr1:224542312..224545237,4	MCF-7	breast:
5	chr1:224299141..224303224-chr1:224514971..224520507,6	MCF-7	breast:
6	chr1:224301491..224304269-chr1:224515082..224517266,2	K562	blood:
7	chr1:224301216..224303713-chr1:224515346..224517425,2	K562	blood:
8	chr1:224301568..224304233-chr1:224516678..224521021,7	MCF-7	breast:
9	chr1:224509313..224513454-chr1:224513971..224516940,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction
ENSG00000162909	Chromatin interaction
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58076906	1.00[AMR][1000 genomes]
rs61424101	1.00[AMR][1000 genomes]
rs61546171	1.00[AMR][1000 genomes]
rs73118072	1.00[AMR][1000 genomes]
rs73118087	1.00[AMR][1000 genomes]
rs73118092	1.00[AMR][1000 genomes]
rs73121832	1.00[AMR][1000 genomes]
rs73121839	1.00[AMR][1000 genomes]
rs73121851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127512	1.00[AMR][1000 genomes]
rs73131619	1.00[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224482800-224517000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:224483800-224517200	Weak transcription	Small Intestine	intestine
3	chr1:224495400-224516800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:224496000-224517000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:224498000-224517000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:224498000-224517200	Weak transcription	Aorta	Aorta
7	chr1:224504200-224517000	Weak transcription	HSMMtube	muscle
8	chr1:224504400-224517200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:224504400-224517200	Weak transcription	Pancreas	Pancrea
10	chr1:224504400-224517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:224504600-224516800	Weak transcription	Right Ventricle	heart
12	chr1:224506400-224516800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:224510000-224517400	Weak transcription	Spleen	Spleen
14	chr1:224513600-224517200	Weak transcription	Lung	lung
15	chr1:224513800-224517200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:224514200-224517000	Enhancers	Liver	Liver
17	chr1:224514400-224517000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:224514800-224517000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:224515000-224517400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:224515400-224517000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:224515400-224517000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:224515400-224517000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:224515600-224517200	Weak transcription	Stomach Mucosa	stomach
24	chr1:224516000-224516800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:224516000-224516800	Flanking Active TSS	Hela-S3	cervix
26	chr1:224516000-224516800	Enhancers	HUVEC	blood vessel
27	chr1:224516000-224517000	Enhancers	Primary B cells from cord blood	blood
28	chr1:224516000-224517000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:224516000-224517000	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:224516000-224517000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:224516200-224516800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:224516200-224516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:224516200-224516800	Enhancers	Fetal Brain Male	brain
34	chr1:224516200-224516800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr1:224516200-224516800	Enhancers	Fetal Stomach	stomach
36	chr1:224516200-224516800	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:224516200-224516800	Flanking Active TSS	K562	blood
38	chr1:224516200-224517000	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:224516200-224517000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr1:224516200-224517000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:224516200-224517000	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr1:224516200-224517000	Enhancers	Fetal Heart	heart
43	chr1:224516200-224517000	Enhancers	Fetal Lung	lung
44	chr1:224516200-224517200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:224516200-224517200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:224516200-224517200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:224516200-224517200	Flanking Active TSS	Dnd41	blood
48	chr1:224516200-224518600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:224516200-224518800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:224516200-224518800	Active TSS	HUES6 Cell Line	embryonic stem cell

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