Variant report

Variant	rs12112617
Chromosome Location	chr7:98704404-98704405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98701962..98705094-chr7:98739089..98741779,3	K562	blood:
2	chr7:98703474..98705646-chr7:98736902..98738750,2	K562	blood:
3	chr7:98701407..98705443-chr7:98739204..98743713,4	MCF-7	breast:
4	chr7:98702619..98704754-chr7:98708950..98710841,2	MCF-7	breast:
5	chr7:98702976..98705646-chr7:98736902..98739331,2	K562	blood:
6	chr7:98701918..98704842-chr7:98705814..98708479,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12112986	1.00[EUR][1000 genomes]
rs12113003	1.00[EUR][1000 genomes]
rs12113535	1.00[EUR][1000 genomes]
rs12113540	1.00[EUR][1000 genomes]
rs35614868	1.00[EUR][1000 genomes]
rs4729513	1.00[EUR][1000 genomes]
rs56140509	1.00[EUR][1000 genomes]
rs6975658	1.00[EUR][1000 genomes]
rs73399283	1.00[EUR][1000 genomes]
rs73709536	1.00[EUR][1000 genomes]
rs73709550	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7783504	1.00[EUR][1000 genomes]
rs7800815	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98677200-98705400	Weak transcription	Fetal Thymus	thymus
2	chr7:98684400-98706600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:98692600-98706800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:98693800-98705800	Weak transcription	Lung	lung
5	chr7:98694000-98705800	Weak transcription	Left Ventricle	heart
6	chr7:98694000-98705800	Weak transcription	Right Ventricle	heart
7	chr7:98694000-98706400	Weak transcription	Fetal Lung	lung
8	chr7:98694000-98706800	Weak transcription	Right Atrium	heart
9	chr7:98694200-98706600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:98695200-98705200	Weak transcription	Gastric	stomach
11	chr7:98697000-98706400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:98697200-98705000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:98697400-98705200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:98697400-98705400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:98697400-98706400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:98697400-98709200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:98697400-98717600	Weak transcription	Dnd41	blood
18	chr7:98697600-98705200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:98697600-98705400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:98698000-98705000	Weak transcription	Primary T cells from cord blood	blood
21	chr7:98698000-98706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:98698200-98705200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:98698200-98709400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:98699200-98706600	Enhancers	NHDF-Ad	bronchial
25	chr7:98699400-98706800	Weak transcription	Fetal Stomach	stomach
26	chr7:98700600-98706400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:98700800-98705200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:98700800-98706800	Weak transcription	Esophagus	oesophagus
29	chr7:98701000-98705200	Enhancers	Osteobl	bone
30	chr7:98701000-98706800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:98701200-98704800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:98701200-98706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:98701200-98707000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:98701400-98706800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:98701400-98706800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:98701400-98707000	Weak transcription	K562	blood
37	chr7:98701600-98706400	Weak transcription	Hela-S3	cervix
38	chr7:98702000-98705200	Enhancers	Brain Substantia Nigra	brain
39	chr7:98702000-98706400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:98702200-98704600	Enhancers	Brain Anterior Caudate	brain
41	chr7:98702600-98705400	Weak transcription	Spleen	Spleen
42	chr7:98702600-98706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:98702600-98706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:98702600-98706600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:98702600-98706600	Weak transcription	Fetal Brain Male	brain
46	chr7:98702600-98706800	Weak transcription	Fetal Brain Female	brain
47	chr7:98702600-98710200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:98702800-98704800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:98702800-98706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:98702800-98706600	Weak transcription	Primary B cells from cord blood	blood

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