Variant report

Variant	rs624307
Chromosome Location	chr11:65144075-65144076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
2	chr11:65142980..65144589-chr11:65154046..65155693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000126391	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2957264	0.83[AMR][1000 genomes]
rs557777	0.83[AMR][1000 genomes]
rs590601	0.83[AMR][1000 genomes]
rs683338	1.00[MKK][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65134200-65144400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:65134200-65144600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:65134200-65144800	Weak transcription	Spleen	Spleen
4	chr11:65134200-65145400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:65134200-65146400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:65134200-65147200	Weak transcription	Fetal Thymus	thymus
7	chr11:65134200-65149200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:65134400-65144800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:65134400-65145400	Weak transcription	Placenta	Placenta
10	chr11:65134400-65149400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65134600-65145200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:65135600-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:65138200-65146200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:65138800-65144200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:65138800-65147200	Weak transcription	Lung	lung
16	chr11:65138800-65147600	Weak transcription	Right Ventricle	heart
17	chr11:65138800-65149400	Weak transcription	Aorta	Aorta
18	chr11:65139000-65145000	Weak transcription	GM12878-XiMat	blood
19	chr11:65139200-65145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:65139200-65145600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:65139200-65146600	Weak transcription	HSMMtube	muscle
22	chr11:65139200-65148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:65139400-65144800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:65139400-65147800	Weak transcription	Psoas Muscle	Psoas
25	chr11:65139400-65148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:65140000-65146000	Weak transcription	Liver	Liver
27	chr11:65140000-65148400	Weak transcription	K562	blood
28	chr11:65140000-65149200	Weak transcription	HSMM	muscle
29	chr11:65140400-65145600	Weak transcription	Hela-S3	cervix
30	chr11:65140400-65149200	Weak transcription	Right Atrium	heart
31	chr11:65141000-65149200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:65141600-65144600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:65141600-65148400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:65142000-65144800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:65142000-65147400	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:65142000-65148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:65142000-65148200	Weak transcription	Left Ventricle	heart
38	chr11:65142200-65144200	Weak transcription	Fetal Heart	heart
39	chr11:65142200-65148200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:65142600-65148000	Strong transcription	Primary T cells from cord blood	blood
41	chr11:65143000-65145200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:65143000-65147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:65143000-65148200	Weak transcription	HMEC	breast
44	chr11:65143000-65148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:65143200-65144600	Weak transcription	HepG2	liver
46	chr11:65143200-65145800	Weak transcription	A549	lung
47	chr11:65143200-65147400	Weak transcription	Esophagus	oesophagus
48	chr11:65143200-65147400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:65143200-65148200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:65143400-65144200	Strong transcription	Fetal Intestine Large	intestine

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