Variant report

Variant	rs11982018
Chromosome Location	chr7:99231254-99231255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99216120..99218766-chr7:99230019..99232537,3	MCF-7	breast:
2	chr7:99228894..99231591-chr7:99234960..99236769,2	K562	blood:

Variant related genes	Relation type
ENSG00000197037	Chromatin interaction
ENSG00000224448	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10156164	1.00[EUR][1000 genomes]
rs10224569	1.00[EUR][1000 genomes]
rs10227100	1.00[EUR][1000 genomes]
rs10231168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10239632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242209	1.00[EUR][1000 genomes]
rs10249369	0.83[AMR][1000 genomes]
rs10256106	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256572	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264272	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264769	1.00[EUR][1000 genomes]
rs10270499	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271217	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10272855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1083108	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1083109	1.00[EUR][1000 genomes]
rs11487060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12113473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114000	1.00[EUR][1000 genomes]
rs2017121	1.00[EUR][1000 genomes]
rs2687074	1.00[EUR][1000 genomes]
rs2687080	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28443180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451617	0.83[AFR][1000 genomes]
rs28539499	1.00[EUR][1000 genomes]
rs28647266	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2980374	1.00[EUR][1000 genomes]
rs34183388	1.00[EUR][1000 genomes]
rs45616432	1.00[EUR][1000 genomes]
rs60135240	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61193950	0.81[AFR][1000 genomes]
rs6963623	1.00[EUR][1000 genomes]
rs6975773	1.00[EUR][1000 genomes]
rs776740	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801671	1.00[EUR][1000 genomes]
rs7807561	1.00[EUR][1000 genomes]
rs7811022	1.00[EUR][1000 genomes]
rs7811025	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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv981815	chr7:99224245-99235459	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99215000-99236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99215800-99231800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:99215800-99232200	Strong transcription	Fetal Stomach	stomach
4	chr7:99216000-99231400	Strong transcription	Brain Inferior Temporal Lobe	brain
5	chr7:99216200-99231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:99216200-99231800	Strong transcription	Placenta	Placenta
7	chr7:99216200-99231800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:99216200-99232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:99216200-99232000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:99216200-99232000	Strong transcription	Fetal Intestine Large	intestine
11	chr7:99216200-99232200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr7:99216200-99232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:99216200-99232200	Strong transcription	Lung	lung
14	chr7:99216400-99231600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr7:99216400-99231800	Strong transcription	Fetal Brain Female	brain
16	chr7:99216400-99232000	Strong transcription	Primary B cells from cord blood	blood
17	chr7:99216400-99232000	Strong transcription	GM12878-XiMat	blood
18	chr7:99216400-99232400	Strong transcription	Brain Germinal Matrix	brain
19	chr7:99216600-99231800	Strong transcription	Brain Substantia Nigra	brain
20	chr7:99216600-99231800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr7:99216800-99232000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:99217000-99231400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:99217200-99231800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:99218000-99232200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:99220600-99232200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:99221600-99231800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:99221600-99231800	Strong transcription	Spleen	Spleen
28	chr7:99221800-99232000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:99222600-99232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:99223000-99232600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:99223200-99231800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:99223200-99231800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:99223600-99232200	Strong transcription	Fetal Thymus	thymus
34	chr7:99223800-99232000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:99223800-99232200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:99223800-99232800	Strong transcription	Primary T cells from cord blood	blood
37	chr7:99224000-99241800	Weak transcription	HSMMtube	muscle
38	chr7:99224400-99232000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:99224600-99232000	Strong transcription	Dnd41	blood
40	chr7:99225200-99233200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:99225400-99232600	Weak transcription	Fetal Heart	heart
42	chr7:99225400-99243000	Weak transcription	Fetal Brain Male	brain
43	chr7:99225800-99241800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:99226200-99232400	Weak transcription	Fetal Kidney	kidney
45	chr7:99227200-99231800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:99228000-99231800	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr7:99228200-99244200	Weak transcription	Psoas Muscle	Psoas
48	chr7:99228400-99231600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:99228400-99236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:99228400-99258000	Weak transcription	Colon Smooth Muscle	Colon

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