Variant report

Variant	rs2374996
Chromosome Location	chr11:86779839-86779840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86779436..86781916-chr11:86820681..86823632,2	K562	blood:
2	chr11:86666377..86668127-chr11:86777845..86780660,2	K562	blood:

Variant related genes	Relation type
ENSG00000174804	Chromatin interaction
ENSG00000246523	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2124577	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2124579	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2445537	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445538	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445543	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2445549	0.80[EUR][1000 genomes]
rs2445552	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2445564	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445570	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445581	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2451066	0.81[EUR][1000 genomes]
rs2512335	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2512370	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512371	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512373	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512379	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512392	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2512478	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512486	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2512498	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512502	0.80[ASN][1000 genomes]
rs2513206	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513208	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2513219	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513220	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513234	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7481222	0.81[AMR][1000 genomes]
rs965467	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86750800-86780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:86750800-86782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:86750800-86787400	Weak transcription	A549	lung
4	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:86751400-86786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:86751600-86787000	Weak transcription	Aorta	Aorta
9	chr11:86755400-86780200	Weak transcription	Adipose Nuclei	Adipose
10	chr11:86755400-86780400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:86756400-86782800	Weak transcription	Fetal Intestine Small	intestine
12	chr11:86758200-86780000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:86758200-86780400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:86758200-86783200	Weak transcription	Primary T cells from cord blood	blood
15	chr11:86758200-86786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:86767800-86782800	Weak transcription	Left Ventricle	heart
17	chr11:86769000-86786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:86769200-86786400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:86769200-86786800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:86769200-86791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:86769200-86792400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:86769600-86784800	Weak transcription	Ovary	ovary
23	chr11:86769600-86786600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:86770200-86784200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
26	chr11:86771000-86786600	Weak transcription	Fetal Brain Male	brain
27	chr11:86771200-86786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:86771800-86786000	Weak transcription	Fetal Lung	lung
29	chr11:86773000-86783000	Weak transcription	NHDF-Ad	bronchial
30	chr11:86773000-86790800	Weak transcription	NHLF	lung
31	chr11:86773000-86792000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:86774200-86782800	Weak transcription	Fetal Stomach	stomach
33	chr11:86774600-86792400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:86774800-86786400	Weak transcription	Lung	lung
35	chr11:86774800-86786800	Weak transcription	Pancreas	Pancrea
36	chr11:86774800-86786800	Weak transcription	Right Ventricle	heart
37	chr11:86774800-86787600	Weak transcription	NHEK	skin
38	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
39	chr11:86775000-86786600	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:86775200-86780400	Weak transcription	HepG2	liver
41	chr11:86775600-86786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:86775600-86791400	Weak transcription	HSMM	muscle
43	chr11:86776200-86787000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:86776400-86786000	Weak transcription	Fetal Thymus	thymus
45	chr11:86776400-86792400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:86776600-86780400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:86776600-86786600	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:86776600-86793000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
50	chr11:86776800-86780200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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