Variant report

Variant	rs11163978
Chromosome Location	chr1:84946469-84946470
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84945634..84947258-chr1:85153889..85156502,2	K562	blood:
2	chr1:84943777..84946552-chr1:84970497..84973179,2	MCF-7	breast:
3	chr1:84765283..84767308-chr1:84944913..84946542,2	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
5	chr1:84765808..84767323-chr1:84944913..84947326,2	K562	blood:
6	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
7	chr1:84940376..84943283-chr1:84945216..84947221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117155	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000203943	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10874450	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11163977	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11163983	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11163984	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163989	1.00[EUR][1000 genomes]
rs11163995	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11163997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164002	1.00[YRI][hapmap]
rs12067077	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12068340	1.00[YRI][hapmap]
rs12076236	0.82[YRI][hapmap]
rs12077012	1.00[EUR][1000 genomes]
rs12092954	0.82[EUR][1000 genomes]
rs12093101	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12097619	1.00[YRI][hapmap]
rs12134893	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12137560	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12141175	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12144912	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84944400-84946600	Active TSS	Psoas Muscle	Psoas
2	chr1:84944400-84946600	Active TSS	NHDF-Ad	bronchial
3	chr1:84944400-84947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:84944600-84947000	Active TSS	Aorta	Aorta
5	chr1:84944800-84946600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:84944800-84946800	Active TSS	GM12878-XiMat	blood
7	chr1:84945200-84946600	Active TSS	Brain Germinal Matrix	brain
8	chr1:84945400-84946600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr1:84945600-84946600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr1:84945600-84946600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:84945600-84946600	Flanking Active TSS	Thymus	Thymus
12	chr1:84945600-84946600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:84945600-84947000	Flanking Active TSS	Dnd41	blood
14	chr1:84945600-84949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:84945800-84946600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:84945800-84946600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:84945800-84946600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:84945800-84946800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:84945800-84947200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:84946000-84946600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr1:84946000-84946600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:84946000-84946800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:84946000-84946800	Weak transcription	Fetal Kidney	kidney
24	chr1:84946000-84946800	Weak transcription	Ovary	ovary
25	chr1:84946000-84946800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:84946000-84947000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:84946000-84947000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:84946000-84947000	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:84946000-84947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:84946000-84947000	Enhancers	Fetal Lung	lung
31	chr1:84946000-84947000	Weak transcription	Placenta	Placenta
32	chr1:84946000-84947000	Weak transcription	Left Ventricle	heart
33	chr1:84946000-84947000	Weak transcription	Lung	lung
34	chr1:84946000-84947000	Weak transcription	Pancreas	Pancrea
35	chr1:84946000-84947000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:84946000-84947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:84946000-84947400	Enhancers	Fetal Heart	heart
38	chr1:84946000-84947400	Enhancers	Small Intestine	intestine
39	chr1:84946000-84948600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:84946000-84949000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:84946000-84949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:84946000-84956400	Weak transcription	Gastric	stomach
44	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
45	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
48	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:84946200-84946600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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