Variant report

Variant	rs73709548
Chromosome Location	chr7:98706952-98706953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98701918..98704842-chr7:98705814..98708479,3	MCF-7	breast:
2	chr7:98657665..98659351-chr7:98705792..98707961,2	MCF-7	breast:
3	chr7:98705746..98709744-chr7:98739368..98742285,3	MCF-7	breast:
4	chr7:98706945..98709211-chr7:98711073..98713385,2	K562	blood:
5	chr7:98704874..98707226-chr7:98739662..98742113,2	K562	blood:
6	chr7:98696493..98698326-chr7:98705563..98708307,2	MCF-7	breast:
7	chr7:98700393..98702654-chr7:98706594..98709007,3	K562	blood:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10241277	1.00[EUR][1000 genomes]
rs10441294	1.00[EUR][1000 genomes]
rs34983214	1.00[EUR][1000 genomes]
rs59206769	1.00[EUR][1000 genomes]
rs61532425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73709546	1.00[EUR][1000 genomes]
rs73709547	1.00[EUR][1000 genomes]
rs73709549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73709551	0.87[AFR][1000 genomes]
rs73711456	1.00[EUR][1000 genomes]
rs73711457	1.00[EUR][1000 genomes]
rs73711459	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98697400-98709200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:98697400-98717600	Weak transcription	Dnd41	blood
3	chr7:98698200-98709400	Weak transcription	Fetal Intestine Small	intestine
4	chr7:98701200-98707000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:98701400-98707000	Weak transcription	K562	blood
6	chr7:98702600-98710200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:98702800-98708000	Weak transcription	Fetal Heart	heart
8	chr7:98703200-98707400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:98703200-98707600	Enhancers	Adipose Nuclei	Adipose
10	chr7:98703200-98708400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:98703200-98710200	Enhancers	HMEC	breast
12	chr7:98703400-98707400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:98703400-98711200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:98703600-98707800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:98703800-98707200	Enhancers	Stomach Mucosa	stomach
16	chr7:98703800-98708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:98703800-98711000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:98704000-98707800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:98704000-98708200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:98704200-98707200	Enhancers	GM12878-XiMat	blood
21	chr7:98704400-98707400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:98704400-98710200	Enhancers	Brain Hippocampus Middle	brain
23	chr7:98704600-98709600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:98704600-98710200	Enhancers	Brain Angular Gyrus	brain
25	chr7:98704600-98710400	Enhancers	NHEK	skin
26	chr7:98705000-98710400	Enhancers	HSMM	muscle
27	chr7:98705200-98707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:98705200-98707200	Enhancers	Pancreas	Pancrea
29	chr7:98705200-98707400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:98705200-98707600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:98705200-98711000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:98705400-98707200	Enhancers	Fetal Thymus	thymus
33	chr7:98705400-98707200	Enhancers	Spleen	Spleen
34	chr7:98705400-98707400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:98705400-98710200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr7:98705600-98708600	Enhancers	NH-A	brain
37	chr7:98705600-98709200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:98705800-98708000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:98705800-98708000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:98705800-98708000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:98705800-98708000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:98705800-98709800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:98705800-98711600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:98705800-98719400	Weak transcription	Fetal Kidney	kidney
45	chr7:98706000-98710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:98706200-98707200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:98706200-98708600	Enhancers	Primary T cells from cord blood	blood
48	chr7:98706200-98708800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:98706400-98707200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:98706400-98707200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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