Variant report

Variant	rs7946447
Chromosome Location	chr11:65864338-65864339
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	chr11:65863255..65865809-chr11:65866916..65869182,2	K562	blood:

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10750777	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10750778	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10791849	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791850	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791851	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791852	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791853	0.86[EUR][1000 genomes]
rs10791854	0.88[EUR][1000 genomes]
rs10791855	0.88[EUR][1000 genomes]
rs10791856	0.86[EUR][1000 genomes]
rs10791858	0.87[EUR][1000 genomes]
rs10791859	0.87[EUR][1000 genomes]
rs10896076	0.81[ASN][1000 genomes]
rs10896077	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10896080	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896081	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896085	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896087	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896089	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896090	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896091	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896092	0.86[EUR][1000 genomes]
rs10896093	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10896094	0.89[EUR][1000 genomes]
rs10896095	0.86[EUR][1000 genomes]
rs10896097	0.86[EUR][1000 genomes]
rs10896098	0.88[EUR][1000 genomes]
rs10896099	0.89[EUR][1000 genomes]
rs11227403	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227409	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227410	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227411	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227413	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227414	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11227415	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227420	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227426	0.87[EUR][1000 genomes]
rs11607393	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12049852	0.88[EUR][1000 genomes]
rs12226649	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12797158	0.89[EUR][1000 genomes]
rs12797586	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12800670	0.85[EUR][1000 genomes]
rs1717671	0.82[EUR][1000 genomes]
rs1862005	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987678	0.88[EUR][1000 genomes]
rs2177053	0.89[EUR][1000 genomes]
rs2177054	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293121	0.88[EUR][1000 genomes]
rs2889313	0.87[EUR][1000 genomes]
rs3088328	0.87[EUR][1000 genomes]
rs3825067	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3862386	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3953856	0.87[EUR][1000 genomes]
rs4013917	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4604890	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs471484	0.86[EUR][1000 genomes]
rs485857	0.86[EUR][1000 genomes]
rs488320	0.86[EUR][1000 genomes]
rs535395	0.88[EUR][1000 genomes]
rs571434	0.87[EUR][1000 genomes]
rs580891	0.86[EUR][1000 genomes]
rs6591207	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6591208	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115081	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7120326	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7124165	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7926402	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7929909	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7931477	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7931544	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7935336	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7937281	0.86[EUR][1000 genomes]
rs7941431	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7941469	0.88[EUR][1000 genomes]
rs7942894	0.85[EUR][1000 genomes]
rs7943911	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7946917	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs918299	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9645684	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9736673	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65842200-65867800	Weak transcription	Ovary	ovary
3	chr11:65845800-65868800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:65848400-65874200	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:65849200-65879600	Weak transcription	Aorta	Aorta
6	chr11:65849800-65867600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:65850200-65866200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:65851200-65864600	Weak transcription	NHEK	skin
9	chr11:65851200-65867600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:65851600-65867800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:65851600-65868200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:65851800-65867800	Weak transcription	Esophagus	oesophagus
14	chr11:65851800-65872000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:65851800-65878800	Weak transcription	HSMM	muscle
16	chr11:65852000-65864800	Weak transcription	Lung	lung
17	chr11:65852000-65866800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:65852000-65867800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:65852000-65867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:65852000-65874000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:65852200-65867600	Weak transcription	Right Ventricle	heart
22	chr11:65852200-65867800	Weak transcription	Thymus	Thymus
23	chr11:65852200-65871600	Weak transcription	Hela-S3	cervix
24	chr11:65852600-65868000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:65852800-65867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:65852800-65867800	Weak transcription	Osteobl	bone
27	chr11:65853000-65867800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:65853400-65871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:65853600-65867200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:65854600-65868200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:65854800-65867600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:65855400-65867800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:65855600-65868200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:65856400-65867600	Weak transcription	Primary B cells from cord blood	blood
35	chr11:65856600-65866000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:65856800-65867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:65858000-65864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:65858200-65867200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:65858200-65867600	Weak transcription	A549	lung
40	chr11:65858400-65864400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:65858400-65864600	Weak transcription	Primary T cells from cord blood	blood
42	chr11:65858600-65866200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:65858800-65864400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:65858800-65864600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:65858800-65864600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:65858800-65864600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:65858800-65864800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:65859000-65873600	Weak transcription	Fetal Intestine Small	intestine
49	chr11:65859200-65867000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:65859600-65867800	Weak transcription	Colon Smooth Muscle	Colon

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