Variant report

Variant	rs11688081
Chromosome Location	chr2:179280799-179280800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178974133..178981122-chr2:179276785..179281060,9	K562	blood:
2	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
3	chr2:179278797..179281186-chr2:180773348..180774954,2	K562	blood:
4	chr2:179278764..179281591-chr2:179306998..179309290,2	K562	blood:
5	chr2:179270312..179272501-chr2:179279008..179282360,3	K562	blood:
6	chr2:179277180..179281325-chr2:179314213..179317479,5	K562	blood:
7	chr2:179238564..179240183-chr2:179278791..179280896,2	K562	blood:
8	chr2:179277322..179281063-chr2:179341771..179345640,5	K562	blood:
9	chr2:179278151..179280958-chr2:179342121..179344961,4	K562	blood:
10	chr2:179278754..179281325-chr2:179313064..179317479,4	K562	blood:
11	chr2:179278648..179281403-chr2:179313491..179316018,3	MCF-7	breast:
12	chr2:179267170..179268852-chr2:179280741..179282900,2	MCF-7	breast:
13	chr2:179278798..179282164-chr2:179284449..179287864,4	K562	blood:
14	chr2:179279482..179281290-chr2:179287442..179289650,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10173183	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10188593	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10204497	0.84[EUR][1000 genomes]
rs1560870	0.87[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs1967327	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2114581	0.87[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs2288320	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28773318	0.94[ASN][1000 genomes]
rs3769867	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4019558	0.87[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4404314	0.86[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4894017	0.90[EUR][1000 genomes]
rs57115861	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7589565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7589679	0.90[EUR][1000 genomes]
rs7605289	0.84[EUR][1000 genomes]
rs8179648	0.91[YRI][hapmap]
rs9288019	0.88[EUR][1000 genomes]
rs9967820	0.91[YRI][hapmap]
rs9973732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv979349	chr2:179279539-179296355	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179278800-179291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:179278800-179292800	Weak transcription	Spleen	Spleen
3	chr2:179278800-179293200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
5	chr2:179279400-179291200	Weak transcription	Lung	lung
6	chr2:179279600-179291200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:179279600-179295000	Weak transcription	Right Ventricle	heart
8	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
9	chr2:179279800-179280800	Enhancers	Fetal Heart	heart
10	chr2:179279800-179282200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:179279800-179282200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:179279800-179283800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:179279800-179286200	Weak transcription	Aorta	Aorta
14	chr2:179279800-179291000	Weak transcription	Thymus	Thymus
15	chr2:179279800-179291200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:179279800-179291200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:179279800-179291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:179279800-179291200	Weak transcription	Left Ventricle	heart
19	chr2:179279800-179291200	Weak transcription	Ovary	ovary
20	chr2:179279800-179293800	Weak transcription	Placenta	Placenta
21	chr2:179279800-179295400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
23	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
24	chr2:179280000-179280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:179280000-179280800	Weak transcription	Brain Germinal Matrix	brain
26	chr2:179280000-179281200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:179280000-179281600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:179280000-179281800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:179280000-179282400	Weak transcription	HMEC	breast
30	chr2:179280000-179283000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:179280000-179283600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:179280000-179284400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:179280000-179285200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:179280000-179285400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:179280000-179286000	Weak transcription	Primary T cells from cord blood	blood
36	chr2:179280000-179286400	Weak transcription	Primary B cells from cord blood	blood
37	chr2:179280000-179287200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:179280000-179287400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:179280000-179289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:179280000-179290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:179280000-179290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:179280000-179291200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:179280000-179291200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:179280000-179291200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:179280000-179291200	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:179280000-179291200	Weak transcription	Fetal Thymus	thymus
47	chr2:179280000-179291200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:179280000-179291200	Weak transcription	NH-A	brain
49	chr2:179280000-179291400	Weak transcription	A549	lung
50	chr2:179280000-179291600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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