Variant report

Variant	rs11684450
Chromosome Location	chr2:153299488-153299489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
2	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10169514	1.00[CHB][hapmap]
rs10191361	1.00[CHB][hapmap]
rs12471183	1.00[CHB][hapmap]
rs17399080	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1878632	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4664109	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664586	0.83[AMR][1000 genomes]
rs56117902	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62180799	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742066	1.00[CHB][hapmap]
rs6759772	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:153282600-153304400	Enhancers	Brain Anterior Caudate	brain
3	chr2:153286200-153301000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:153286400-153305200	Enhancers	Brain Substantia Nigra	brain
5	chr2:153289200-153301800	Weak transcription	NH-A	brain
6	chr2:153289600-153301400	Weak transcription	Fetal Thymus	thymus
7	chr2:153290200-153300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153291200-153300600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:153291600-153300000	Weak transcription	Right Atrium	heart
10	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:153291800-153300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:153293600-153302400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153294600-153300600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:153295000-153302200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:153295200-153300800	Weak transcription	HepG2	liver
16	chr2:153295400-153299600	Weak transcription	Psoas Muscle	Psoas
17	chr2:153295400-153299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:153295400-153300000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:153295400-153300200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:153295400-153300800	Weak transcription	Fetal Brain Female	brain
21	chr2:153295400-153302000	Weak transcription	Fetal Stomach	stomach
22	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:153295400-153311000	Weak transcription	Ovary	ovary
24	chr2:153295800-153305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:153296000-153301800	Weak transcription	Fetal Brain Male	brain
26	chr2:153297000-153299600	Weak transcription	Placenta	Placenta
27	chr2:153297000-153300000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:153297000-153300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:153297000-153300400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:153297000-153301200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:153297000-153301400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:153297000-153302000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:153297000-153302200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:153297000-153305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:153297200-153300400	Weak transcription	Fetal Lung	lung
36	chr2:153297200-153301400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:153297200-153301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:153297200-153302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:153297200-153302200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:153297200-153302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:153297400-153301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:153297400-153302400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:153297600-153302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:153298000-153299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:153298000-153301200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:153298000-153301400	Weak transcription	HMEC	breast
47	chr2:153298000-153302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:153298000-153304000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:153298600-153301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153298800-153303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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