Variant report

Variant	rs7968011
Chromosome Location	chr12:118819806-118819807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118813190..118814795-chr12:118818038..118819892,2	MCF-7	breast:
2	chr12:118819724..118821444-chr12:118824674..118826328,2	K562	blood:
3	chr12:118819053..118819954-chr12:118849536..118850386,2	K562	blood:
4	chr12:118809522..118812617-chr12:118817842..118821161,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000111707	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10082823	0.85[EUR][1000 genomes]
rs1060964	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850967	0.86[EUR][1000 genomes]
rs11068917	0.83[EUR][1000 genomes]
rs11068919	0.88[EUR][1000 genomes]
rs11068926	0.92[EUR][1000 genomes]
rs17440669	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17440774	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17440823	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17440893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441033	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441214	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441251	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.81[AFR][1000 genomes]
rs17512483	0.81[AFR][1000 genomes]
rs17512525	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17512574	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17512609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17512652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513006	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619932	0.84[EUR][1000 genomes]
rs1909617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036314	0.91[EUR][1000 genomes]
rs2036489	0.86[EUR][1000 genomes]
rs2055534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062519	0.86[EUR][1000 genomes]
rs2393403	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784	0.81[AFR][1000 genomes]
rs2893771	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3852531	0.81[AFR][1000 genomes]
rs4406856	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4442583	0.92[EUR][1000 genomes]
rs4457791	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	0.86[EUR][1000 genomes]
rs4766900	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767669	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[ASN][1000 genomes]
rs55659011	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	1.00[ASN][1000 genomes]
rs56275187	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56324376	0.86[EUR][1000 genomes]
rs56347775	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59594854	0.86[EUR][1000 genomes]
rs61943362	0.81[AFR][1000 genomes]
rs61943364	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61943367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943369	0.91[EUR][1000 genomes]
rs61943370	0.92[EUR][1000 genomes]
rs61943371	0.92[EUR][1000 genomes]
rs61943385	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943393	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943399	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943457	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	0.81[AFR][1000 genomes]
rs61945192	0.91[AFR][1000 genomes]
rs61945212	0.91[AFR][1000 genomes]
rs61945217	0.81[AFR][1000 genomes]
rs61945220	0.91[AFR][1000 genomes]
rs61945221	0.91[AFR][1000 genomes]
rs61945223	0.81[AFR][1000 genomes]
rs61945224	0.81[AFR][1000 genomes]
rs61945225	0.81[AFR][1000 genomes]
rs61946067	0.91[AFR][1000 genomes]
rs61946068	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6490177	0.83[EUR][1000 genomes]
rs673078	0.83[AFR][1000 genomes]
rs7132753	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7136676	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295288	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302387	0.81[AFR][1000 genomes]
rs7304342	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305647	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7309484	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7312555	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7314987	0.81[AFR][1000 genomes]
rs7315458	0.84[EUR][1000 genomes]
rs73205531	0.91[AFR][1000 genomes]
rs73205576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7958652	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7960802	0.81[AFR][1000 genomes]
rs7961312	0.81[AFR][1000 genomes]
rs7967900	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882927	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884844	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs950288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7968011	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118815800-118824400	Weak transcription	Stomach Mucosa	stomach
2	chr12:118815800-118827400	Weak transcription	Psoas Muscle	Psoas
3	chr12:118815800-118839600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:118815800-118855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:118816200-118820800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:118816200-118821000	Weak transcription	HSMM	muscle
8	chr12:118816200-118823200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:118816200-118823200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:118816200-118824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:118816200-118824000	Weak transcription	Small Intestine	intestine
12	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:118816400-118835600	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:118816400-118838600	Strong transcription	Fetal Stomach	stomach
15	chr12:118816400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:118816400-118855400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:118816600-118820600	Strong transcription	Fetal Intestine Small	intestine
18	chr12:118816800-118820200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:118816800-118820400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:118816800-118821000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:118816800-118821200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:118816800-118828800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:118816800-118831800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:118816800-118839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:118816800-118841600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr12:118816800-118844400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:118816800-118855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:118816800-118855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:118816800-118855400	Strong transcription	Primary T cells from cord blood	blood
30	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
31	chr12:118817000-118820600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:118817000-118821600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:118817000-118845600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:118817000-118846000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:118817200-118820000	Strong transcription	Brain Substantia Nigra	brain
38	chr12:118817200-118820200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:118817200-118820200	Strong transcription	Spleen	Spleen
40	chr12:118817200-118820400	Strong transcription	Lung	lung
41	chr12:118817200-118821600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:118817200-118822000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr12:118817200-118822400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:118817200-118826600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr12:118817200-118829200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:118817200-118832600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:118817200-118833000	Strong transcription	Fetal Lung	lung
48	chr12:118817200-118834200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:118817200-118837400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:118817200-118839400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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