Variant report

Variant	rs11678092
Chromosome Location	chr2:209149617-209149618
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209131018..209132806-chr2:209148294..209150467,2	K562	blood:
2	chr2:209130912..209132518-chr2:209148958..209150467,2	K562	blood:
3	chr2:209135233..209137372-chr2:209148836..209151821,2	K562	blood:
4	chr2:209142059..209143570-chr2:209148866..209150548,2	K562	blood:
5	chr2:209143792..209146656-chr2:209148818..209151029,2	K562	blood:

Variant related genes	Relation type
ENSG00000115020	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12614048	0.83[CHB][hapmap]
rs1370371	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:209137800-209155000	Strong transcription	Fetal Intestine Large	intestine
9	chr2:209138000-209155600	Strong transcription	Thymus	Thymus
10	chr2:209139000-209155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:209139000-209163400	Weak transcription	Right Ventricle	heart
12	chr2:209139200-209159400	Weak transcription	Small Intestine	intestine
13	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
14	chr2:209139800-209161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:209141800-209169000	Weak transcription	Hela-S3	cervix
17	chr2:209143400-209152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:209143800-209150400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:209143800-209152800	Weak transcription	Fetal Heart	heart
20	chr2:209143800-209154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:209143800-209154800	Weak transcription	Brain Germinal Matrix	brain
22	chr2:209144000-209153600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:209144000-209154400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:209145400-209152800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:209145800-209150400	Weak transcription	Psoas Muscle	Psoas
26	chr2:209145800-209150800	Weak transcription	NHEK	skin
27	chr2:209145800-209158400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:209146000-209152800	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:209146000-209152800	Weak transcription	Fetal Brain Female	brain
30	chr2:209146400-209150400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:209146400-209152600	Weak transcription	Right Atrium	heart
32	chr2:209146400-209152800	Weak transcription	NHLF	lung
33	chr2:209146600-209150400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:209146600-209150400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:209146600-209150400	Weak transcription	Fetal Brain Male	brain
36	chr2:209146600-209150400	Weak transcription	HSMM	muscle
37	chr2:209146600-209150800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:209146600-209152800	Weak transcription	K562	blood
39	chr2:209146600-209153000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:209146600-209154400	Weak transcription	Pancreas	Pancrea
41	chr2:209146600-209154400	Weak transcription	HSMMtube	muscle
42	chr2:209146600-209155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:209146800-209150400	Weak transcription	HMEC	breast
44	chr2:209146800-209150400	Weak transcription	NHDF-Ad	bronchial
45	chr2:209147000-209153200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:209147000-209153400	Weak transcription	Colonic Mucosa	Colon
47	chr2:209147000-209153400	Strong transcription	Fetal Stomach	stomach
48	chr2:209147000-209154800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:209147200-209154800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:209147200-209155600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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