Variant report

Variant	rs11598002
Chromosome Location	chr10:27834563-27834564
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27823448..27828239-chr10:27829759..27835759,6	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11596273	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67444000	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:27814200-27836000	Weak transcription	Brain Germinal Matrix	brain
3	chr10:27820400-27835200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:27822200-27835200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:27823000-27836200	Weak transcription	Fetal Brain Female	brain
6	chr10:27823000-27838200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:27823400-27836600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:27823600-27834800	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:27823600-27838200	Weak transcription	Pancreas	Pancrea
10	chr10:27824400-27835800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:27824400-27836200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:27824600-27835200	Weak transcription	Colonic Mucosa	Colon
13	chr10:27824600-27836000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:27824600-27836400	Weak transcription	Fetal Kidney	kidney
15	chr10:27824600-27838000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:27824800-27836600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:27825000-27836600	Weak transcription	Gastric	stomach
18	chr10:27825600-27835200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr10:27825800-27834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:27826200-27835200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:27826200-27836600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:27826200-27838000	Weak transcription	Ovary	ovary
23	chr10:27826400-27836400	Weak transcription	A549	lung
24	chr10:27826400-27841800	Weak transcription	HSMMtube	muscle
25	chr10:27826600-27838200	Weak transcription	Spleen	Spleen
26	chr10:27827200-27834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:27827200-27836800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr10:27827200-27838200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr10:27827400-27839600	Weak transcription	Brain Substantia Nigra	brain
30	chr10:27827800-27835200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:27827800-27836600	Weak transcription	Fetal Intestine Large	intestine
32	chr10:27828000-27835000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:27828000-27836000	Weak transcription	NHLF	lung
34	chr10:27828000-27836400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:27828000-27839000	Weak transcription	Fetal Lung	lung
36	chr10:27828200-27836200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:27828400-27838400	Weak transcription	NH-A	brain
38	chr10:27828600-27836600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:27831200-27835200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:27831400-27836800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr10:27831400-27838000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:27831600-27836000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr10:27831600-27836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr10:27831800-27838000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr10:27832000-27835000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr10:27832000-27838200	Weak transcription	HUVEC	blood vessel
47	chr10:27832000-27839600	Weak transcription	Esophagus	oesophagus
48	chr10:27832000-27840800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:27832200-27837000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:27832400-27834600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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