Variant report

Variant	rs34027587
Chromosome Location	chr2:153292614-153292615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153290893..153293486-chr2:153295142..153297714,3	K562	blood:
2	chr2:153292111..153294538-chr2:153295389..153297275,2	MCF-7	breast:
3	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:
4	chr2:153290893..153293796-chr2:153295142..153299190,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10460316	0.86[EUR][1000 genomes]
rs11884490	0.90[EUR][1000 genomes]
rs11897348	0.93[EUR][1000 genomes]
rs12105467	0.86[EUR][1000 genomes]
rs12105483	0.88[EUR][1000 genomes]
rs12989726	0.88[EUR][1000 genomes]
rs12992900	0.88[EUR][1000 genomes]
rs13033468	0.88[EUR][1000 genomes]
rs16831031	0.86[EUR][1000 genomes]
rs16831043	0.83[EUR][1000 genomes]
rs16831135	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16831229	0.83[EUR][1000 genomes]
rs16831246	0.86[EUR][1000 genomes]
rs16831247	0.86[EUR][1000 genomes]
rs2345875	0.86[EUR][1000 genomes]
rs2881338	0.83[EUR][1000 genomes]
rs34520795	0.88[EUR][1000 genomes]
rs35455499	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4233659	0.88[EUR][1000 genomes]
rs4664108	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4664111	0.83[EUR][1000 genomes]
rs4664584	0.83[EUR][1000 genomes]
rs4664588	0.83[EUR][1000 genomes]
rs60280470	0.93[EUR][1000 genomes]
rs67374211	0.88[EUR][1000 genomes]
rs71417228	0.83[EUR][1000 genomes]
rs7582905	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:54 , 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	chr2:153289200-153293600	Weak transcription	Fetal Brain Male	brain
6	chr2:153289200-153293800	Weak transcription	Fetal Brain Female	brain
7	chr2:153289200-153296800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:153289200-153301800	Weak transcription	NH-A	brain
9	chr2:153289600-153296600	Weak transcription	Small Intestine	intestine
10	chr2:153289600-153301400	Weak transcription	Fetal Thymus	thymus
11	chr2:153290200-153294800	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:153290200-153300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:153290400-153296000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:153290800-153296200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:153291200-153294000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:153291200-153295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:153291200-153296600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:153291200-153300600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:153291400-153292800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:153291400-153293600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:153291400-153293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:153291400-153293800	Weak transcription	Fetal Stomach	stomach
23	chr2:153291400-153294000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:153291400-153294200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:153291400-153294200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:153291600-153293000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:153291600-153293200	Weak transcription	Brain Angular Gyrus	brain
28	chr2:153291600-153293400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:153291600-153293400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:153291600-153293400	Weak transcription	Psoas Muscle	Psoas
31	chr2:153291600-153293600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:153291600-153293800	Weak transcription	Fetal Lung	lung
33	chr2:153291600-153294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:153291600-153294200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:153291600-153294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:153291600-153296200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:153291600-153296600	Weak transcription	Placenta	Placenta
38	chr2:153291600-153300000	Weak transcription	Right Atrium	heart
39	chr2:153291600-153305200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:153291800-153293000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:153291800-153293200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:153291800-153294000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:153291800-153294000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:153291800-153294600	Weak transcription	HepG2	liver
45	chr2:153291800-153294800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153291800-153294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:153291800-153294800	Weak transcription	Ovary	ovary
48	chr2:153291800-153294800	Weak transcription	NHEK	skin
49	chr2:153291800-153300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:153292000-153293600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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