Variant report

Variant	rs2145793
Chromosome Location	chr11:34255059-34255060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34244635..34246968-chr11:34254314..34256180,3	K562	blood:
2	chr11:34244635..34246968-chr11:34254432..34256180,2	K562	blood:
3	chr11:34254769..34257518-chr11:34263900..34266853,2	K562	blood:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1983756	0.88[ASN][1000 genomes]
rs2467371	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2475163	0.98[ASN][1000 genomes]
rs2955948	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1050413	chr11:34237529-34259820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762905	chr11:34238653-34256130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv897204	chr11:34248229-34271712	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:34245200-34255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34245200-34255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:34245200-34255800	Weak transcription	HSMMtube	muscle
5	chr11:34245200-34263800	Weak transcription	Right Atrium	heart
6	chr11:34245200-34264200	Weak transcription	Aorta	Aorta
7	chr11:34245400-34255600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:34245400-34255600	Weak transcription	NHLF	lung
9	chr11:34245600-34263600	Weak transcription	Right Ventricle	heart
10	chr11:34246200-34255600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:34246800-34255800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:34247000-34255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:34247000-34257400	Weak transcription	Fetal Stomach	stomach
14	chr11:34249600-34263600	Weak transcription	Gastric	stomach
15	chr11:34251600-34255400	Enhancers	GM12878-XiMat	blood
16	chr11:34251800-34255400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:34251800-34255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:34252000-34255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:34252000-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:34253600-34256000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:34254000-34256400	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:34254200-34255800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:34254400-34256200	Enhancers	Primary B cells from cord blood	blood
24	chr11:34254600-34255400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr11:34254600-34255400	Enhancers	A549	lung
26	chr11:34254600-34256200	Enhancers	HepG2	liver
27	chr11:34254600-34256400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:34254600-34258800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:34254800-34255600	Enhancers	Hela-S3	cervix
30	chr11:34254800-34256400	Enhancers	Fetal Intestine Small	intestine
31	chr11:34254800-34257200	Weak transcription	Brain Substantia Nigra	brain
32	chr11:34254800-34257600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:34255000-34257600	Enhancers	Fetal Thymus	thymus

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