Variant report

Variant	rs73145620
Chromosome Location	chr7:98626347-98626348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98625288-98626655	K562	blood:	n/a	n/a
2	POLR2A	chr7:98625990-98626426	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr7:98626332-98626601	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:98626015-98626473	A549	lung:	n/a	n/a
5	POLR2A	chr7:98626045-98626438	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:98625766-98626499	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr7:98625261-98627180	K562	blood:	n/a	n/a
8	POLR2A	chr7:98625853-98626401	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:98624837-98629944	K562	blood:	n/a	n/a
10	SPI1	chr7:98626261-98626695	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98625520..98627401-chr7:98629881..98632572,3	K562	blood:
2	chr7:98625520..98627401-chr7:98629881..98632572,2	K562	blood:
3	chr7:98618071..98621437-chr7:98626035..98628307,3	K562	blood:
4	chr7:98625274..98628239-chr7:98630668..98632654,2	MCF-7	breast:
5	chr7:98624718..98626899-chr7:98970267..98973066,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242687	TF binding region
ENSG00000130429	Chromatin interaction
ENSG00000242687	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10487144	0.87[EUR][1000 genomes]
rs11979767	0.87[EUR][1000 genomes]
rs73145604	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73145605	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145606	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145609	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145611	1.00[EUR][1000 genomes]
rs73145614	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145615	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145616	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145621	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145623	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73145624	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145626	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73145629	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73145635	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73147603	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73147604	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73147839	0.85[AMR][1000 genomes]
rs73147848	0.85[AMR][1000 genomes]
rs73147851	0.85[AMR][1000 genomes]
rs73147856	0.85[AMR][1000 genomes]
rs73147860	0.81[EUR][1000 genomes]
rs73147866	0.81[EUR][1000 genomes]
rs73155610	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155612	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155615	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155617	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155619	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73155624	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155626	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155627	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155628	0.87[EUR][1000 genomes]
rs73155630	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155631	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155633	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155637	0.87[EUR][1000 genomes]
rs73155638	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155639	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155641	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155644	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155645	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155648	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155650	0.87[EUR][1000 genomes]
rs73155654	0.87[EUR][1000 genomes]
rs73155657	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155658	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155659	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73155663	0.87[EUR][1000 genomes]
rs73161938	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161939	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161940	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161941	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161943	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161944	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73161947	0.93[EUR][1000 genomes]
rs73161948	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73161949	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73161950	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7791007	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1847495	chr7:98556216-98648069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1034506	chr7:98556216-98678440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98583800-98648800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98604200-98627000	Weak transcription	Fetal Heart	heart
3	chr7:98604800-98627000	Weak transcription	Fetal Brain Male	brain
4	chr7:98607200-98629200	Weak transcription	Psoas Muscle	Psoas
5	chr7:98612000-98627800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:98612400-98627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:98612400-98632000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98612600-98627000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:98612800-98626400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:98613400-98629400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:98613600-98626600	Weak transcription	Fetal Kidney	kidney
12	chr7:98618200-98626400	Weak transcription	Hela-S3	cervix
13	chr7:98618200-98626600	Weak transcription	K562	blood
14	chr7:98618200-98626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:98618800-98628600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:98619800-98626600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:98620000-98626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:98622600-98626800	Weak transcription	Stomach Mucosa	stomach
19	chr7:98623400-98627000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:98623400-98640200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:98624600-98637200	Strong transcription	Fetal Intestine Large	intestine
22	chr7:98624800-98626800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:98624800-98627000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:98624800-98627000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:98624800-98627000	Genic enhancers	HUVEC	blood vessel
26	chr7:98624800-98627200	Strong transcription	Fetal Brain Female	brain
27	chr7:98624800-98627200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:98624800-98627600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:98624800-98627600	Strong transcription	A549	lung
30	chr7:98624800-98627800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:98624800-98627800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:98624800-98627800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:98624800-98633400	Strong transcription	Brain Substantia Nigra	brain
34	chr7:98624800-98637200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:98624800-98644200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:98624800-98651200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:98624800-98653000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:98624800-98655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:98624800-98656600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:98624800-98656600	Strong transcription	Dnd41	blood
41	chr7:98624800-98657800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:98624800-98658400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:98625000-98626400	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:98625000-98627000	Strong transcription	Fetal Lung	lung
45	chr7:98625000-98627000	Strong transcription	Left Ventricle	heart
46	chr7:98625000-98627200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:98625000-98627400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:98625000-98627600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:98625000-98627800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:98625000-98655000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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