Variant report

Variant	rs11980179
Chromosome Location	chr7:99503542-99503543
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	chr7:99503220..99505660-chr7:99506702..99508861,3	K562	blood:
2	chr7:99502753..99505690-chr7:99515414..99518529,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10215184	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225908	1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10272125	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505840	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11977827	1.00[ASN][1000 genomes]
rs11981167	1.00[ASN][1000 genomes]
rs17161997	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082743	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28449324	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28988579	1.00[ASN][1000 genomes]
rs34288759	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	1.00[ASN][1000 genomes]
rs35649099	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472667	1.00[ASN][1000 genomes]
rs480596	1.00[ASN][1000 genomes]
rs487813	1.00[ASN][1000 genomes]
rs501275	1.00[ASN][1000 genomes]
rs516481	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517284	1.00[ASN][1000 genomes]
rs523407	1.00[ASN][1000 genomes]
rs528144	1.00[ASN][1000 genomes]
rs545400	1.00[ASN][1000 genomes]
rs549061	1.00[ASN][1000 genomes]
rs558002	1.00[ASN][1000 genomes]
rs558112	1.00[ASN][1000 genomes]
rs559239	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565079	1.00[ASN][1000 genomes]
rs568859	1.00[ASN][1000 genomes]
rs57256111	1.00[ASN][1000 genomes]
rs57772941	1.00[ASN][1000 genomes]
rs579424	1.00[ASN][1000 genomes]
rs580123	1.00[ASN][1000 genomes]
rs583353	1.00[ASN][1000 genomes]
rs585071	1.00[ASN][1000 genomes]
rs599151	1.00[ASN][1000 genomes]
rs613963	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620020	1.00[ASN][1000 genomes]
rs641761	1.00[ASN][1000 genomes]
rs642761	1.00[ASN][1000 genomes]
rs646563	1.00[ASN][1000 genomes]
rs648515	1.00[ASN][1000 genomes]
rs660629	1.00[ASN][1000 genomes]
rs663476	1.00[ASN][1000 genomes]
rs663493	1.00[ASN][1000 genomes]
rs663495	1.00[ASN][1000 genomes]
rs66629054	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667660	1.00[ASN][1000 genomes]
rs66953435	1.00[ASN][1000 genomes]
rs671673	1.00[ASN][1000 genomes]
rs675644	1.00[ASN][1000 genomes]
rs678040	1.00[ASN][1000 genomes]
rs679320	1.00[ASN][1000 genomes]
rs680055	1.00[ASN][1000 genomes]
rs687134	1.00[ASN][1000 genomes]
rs688926	1.00[ASN][1000 genomes]
rs694924	1.00[ASN][1000 genomes]
rs694939	1.00[ASN][1000 genomes]
rs6957718	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960775	1.00[ASN][1000 genomes]
rs7787525	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798789	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800666	1.00[ASN][1000 genomes]
rs800667	1.00[ASN][1000 genomes]
rs800673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99492600-99516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:99494600-99508800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:99494800-99507200	Strong transcription	Stomach Smooth Muscle	stomach
4	chr7:99495400-99504800	Strong transcription	Fetal Brain Female	brain
5	chr7:99495400-99507200	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr7:99495400-99510200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:99495400-99514400	Weak transcription	Stomach Mucosa	stomach
8	chr7:99495600-99504800	Strong transcription	Brain Germinal Matrix	brain
9	chr7:99495600-99507200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:99495600-99507200	Strong transcription	Brain Angular Gyrus	brain
11	chr7:99495600-99507400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:99495600-99507400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:99495600-99507400	Strong transcription	Adipose Nuclei	Adipose
14	chr7:99495600-99507400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr7:99495600-99507600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr7:99495600-99507600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:99495600-99509600	Strong transcription	Primary T cells from cord blood	blood
18	chr7:99495600-99510200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr7:99495600-99510800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:99495800-99504800	Strong transcription	NHLF	lung
21	chr7:99495800-99507200	Strong transcription	Brain Hippocampus Middle	brain
22	chr7:99495800-99507200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:99495800-99507200	Strong transcription	Left Ventricle	heart
24	chr7:99495800-99507600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:99495800-99507800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:99495800-99508000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr7:99495800-99508200	Strong transcription	A549	lung
28	chr7:99495800-99510000	Strong transcription	Fetal Thymus	thymus
29	chr7:99495800-99510200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:99495800-99510600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:99496000-99504200	Strong transcription	Brain Anterior Caudate	brain
32	chr7:99496000-99507400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:99496000-99507400	Strong transcription	Fetal Intestine Large	intestine
34	chr7:99496000-99507600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:99496000-99509600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:99496200-99509400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:99496400-99504600	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:99496400-99505800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:99496400-99507200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:99496400-99507400	Strong transcription	Liver	Liver
41	chr7:99496400-99508800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:99496400-99510000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:99496400-99510600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:99496600-99507200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr7:99496600-99507400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:99496600-99508800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:99497000-99506000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:99497000-99510200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:99497000-99510200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:99497200-99507400	Strong transcription	GM12878-XiMat	blood

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