Variant report

Variant	rs12534243
Chromosome Location	chr7:98715474-98715475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98714681..98717371-chr7:98728809..98730970,2	MCF-7	breast:
2	chr7:98713442..98716511-chr7:98738204..98742253,3	K562	blood:
3	chr7:98714871..98717070-chr7:98723564..98725401,2	K562	blood:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10231389	1.00[AMR][1000 genomes]
rs1115930	1.00[AMR][1000 genomes]
rs11770956	0.83[EUR][1000 genomes]
rs12705023	0.82[AFR][1000 genomes]
rs13237374	0.83[EUR][1000 genomes]
rs4292617	1.00[AMR][1000 genomes]
rs4510778	0.81[AFR][1000 genomes]
rs4604368	1.00[AMR][1000 genomes]
rs6975671	0.83[AFR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98697400-98717600	Weak transcription	Dnd41	blood
2	chr7:98705800-98719400	Weak transcription	Fetal Kidney	kidney
3	chr7:98707200-98717000	Weak transcription	Fetal Stomach	stomach
4	chr7:98707200-98717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:98707200-98717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:98707200-98717600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
8	chr7:98707400-98717200	Weak transcription	Lung	lung
9	chr7:98707400-98717600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:98708400-98719000	Weak transcription	Fetal Lung	lung
11	chr7:98709800-98717400	Weak transcription	Right Atrium	heart
12	chr7:98709800-98717800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:98709800-98721000	Weak transcription	Colonic Mucosa	Colon
14	chr7:98710000-98715600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:98710000-98716400	Weak transcription	Ovary	ovary
16	chr7:98710000-98717000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:98710000-98717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:98710000-98717200	Weak transcription	Left Ventricle	heart
19	chr7:98710000-98717400	Weak transcription	K562	blood
20	chr7:98710000-98717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:98710000-98717600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:98710000-98718000	Weak transcription	NH-A	brain
23	chr7:98710000-98719400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:98710000-98719400	Weak transcription	Gastric	stomach
25	chr7:98710000-98721400	Weak transcription	Esophagus	oesophagus
26	chr7:98710000-98721400	Weak transcription	Pancreas	Pancrea
27	chr7:98710000-98739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:98710200-98715600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:98710200-98715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:98710200-98715600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:98710200-98715600	Weak transcription	Adipose Nuclei	Adipose
32	chr7:98710200-98715600	Weak transcription	Brain Angular Gyrus	brain
33	chr7:98710200-98715600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:98710200-98716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:98710200-98717000	Weak transcription	Brain Anterior Caudate	brain
36	chr7:98710200-98717200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:98710200-98717200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:98710200-98717200	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:98710200-98718000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:98710200-98720400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:98710200-98721000	Weak transcription	HMEC	breast
42	chr7:98710200-98721600	Weak transcription	Fetal Thymus	thymus
43	chr7:98710200-98723200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:98710200-98723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:98710200-98723400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:98710400-98715600	Weak transcription	HSMM	muscle
47	chr7:98710400-98716000	Weak transcription	NHLF	lung
48	chr7:98710400-98717200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:98710400-98717600	Weak transcription	Hela-S3	cervix
50	chr7:98710400-98717600	Weak transcription	Osteobl	bone

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