Variant report

Variant	rs73147619
Chromosome Location	chr7:98721811-98721812
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98719225..98722098-chr7:98723102..98725417,4	K562	blood:
2	chr7:98718671..98728659-chr7:98733886..98742869,16	K562	blood:
3	chr7:98721212..98723989-chr7:98732516..98736189,3	MCF-7	breast:
4	chr7:98709239..98711562-chr7:98720636..98722362,2	K562	blood:
5	chr7:98720366..98722217-chr7:98725786..98728134,2	K562	blood:
6	chr7:98718886..98722189-chr7:98739592..98743247,4	MCF-7	breast:
7	chr7:98720831..98724792-chr7:98728821..98732987,4	K562	blood:
8	chr7:98721425..98723767-chr7:98806465..98809403,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10248890	0.98[EUR][1000 genomes]
rs10254104	0.91[EUR][1000 genomes]
rs10266364	0.93[EUR][1000 genomes]
rs11764542	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918019	0.93[EUR][1000 genomes]
rs1918020	0.98[EUR][1000 genomes]
rs1918021	0.98[EUR][1000 genomes]
rs2395022	0.98[EUR][1000 genomes]
rs2395048	0.93[EUR][1000 genomes]
rs2395049	0.88[EUR][1000 genomes]
rs2395050	0.93[EUR][1000 genomes]
rs2395051	0.91[EUR][1000 genomes]
rs2894224	0.89[EUR][1000 genomes]
rs4454228	0.98[EUR][1000 genomes]
rs60083526	1.00[EUR][1000 genomes]
rs62473047	0.91[EUR][1000 genomes]
rs6465739	0.93[EUR][1000 genomes]
rs6956645	0.93[EUR][1000 genomes]
rs6961749	0.89[EUR][1000 genomes]
rs6962075	0.98[EUR][1000 genomes]
rs6969313	0.98[EUR][1000 genomes]
rs6975245	0.98[EUR][1000 genomes]
rs73147614	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73147622	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147625	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147630	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147632	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73147639	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73147651	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73147652	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73147654	0.88[EUR][1000 genomes]
rs73147655	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7788750	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
2	chr7:98710000-98739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:98710200-98723200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:98710200-98723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:98710200-98723400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:98710400-98730400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:98711000-98723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98714400-98730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:98717000-98731000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:98717400-98724200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:98718000-98722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:98718000-98723200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:98718200-98723000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:98718200-98726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:98718200-98728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:98718200-98736400	Weak transcription	Dnd41	blood
18	chr7:98718400-98722000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:98718800-98725000	Enhancers	Placenta	Placenta
20	chr7:98718800-98734800	Weak transcription	Fetal Brain Female	brain
21	chr7:98719400-98723200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:98719400-98726000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:98719600-98722200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:98719600-98723000	Enhancers	Osteobl	bone
25	chr7:98719600-98723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:98719600-98723200	Weak transcription	NH-A	brain
27	chr7:98719800-98723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:98719800-98729600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:98720400-98722200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr7:98720400-98722600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:98720400-98723600	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:98720400-98723800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr7:98720400-98723800	Enhancers	Small Intestine	intestine
34	chr7:98720400-98724000	Enhancers	Liver	Liver
35	chr7:98720400-98726400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:98720600-98722600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:98720600-98722600	Enhancers	NHLF	lung
38	chr7:98720600-98723600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:98720800-98722000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:98720800-98722200	Enhancers	Left Ventricle	heart
41	chr7:98720800-98722200	Enhancers	Right Atrium	heart
42	chr7:98720800-98722400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:98720800-98722400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr7:98720800-98722800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:98720800-98722800	Enhancers	Adipose Nuclei	Adipose
46	chr7:98720800-98723600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:98721000-98722200	Enhancers	Ovary	ovary
48	chr7:98721000-98722400	Enhancers	HUVEC	blood vessel
49	chr7:98721000-98722800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:98721000-98723000	Enhancers	HMEC	breast

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