Variant report

Variant	rs34171322
Chromosome Location	chr2:38755373-38755374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38754116..38756013-chr2:38969900..38972568,2	K562	blood:
2	chr2:38755204..38757629-chr2:38975838..38979499,3	MCF-7	breast:
3	chr2:38602800..38605061-chr2:38754455..38756764,2	K562	blood:
4	chr2:38754021..38756013-chr2:38969685..38972568,2	K562	blood:
5	chr2:38754284..38759029-chr2:38759211..38765156,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000271443	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000119787	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10164547	0.84[EUR][1000 genomes]
rs12105827	0.83[ASN][1000 genomes]
rs12993657	0.87[ASN][1000 genomes]
rs13003268	0.83[ASN][1000 genomes]
rs13008970	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13011825	0.84[ASN][1000 genomes]
rs13017981	0.86[ASN][1000 genomes]
rs13030122	0.84[EUR][1000 genomes]
rs17421399	0.83[ASN][1000 genomes]
rs17493321	0.82[ASN][1000 genomes]
rs34311924	0.87[ASN][1000 genomes]
rs34355269	0.82[ASN][1000 genomes]
rs34655983	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35066504	0.84[ASN][1000 genomes]
rs35120096	0.83[ASN][1000 genomes]
rs35275207	0.83[ASN][1000 genomes]
rs35704960	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35789272	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35803605	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3731843	0.86[ASN][1000 genomes]
rs72795132	0.84[ASN][1000 genomes]
rs7592090	0.87[ASN][1000 genomes]
rs7603200	0.86[ASN][1000 genomes]
rs7606253	0.87[ASN][1000 genomes]
rs7606376	0.87[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv527492	chr2:38753337-38759797	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:38752200-38755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:38755000-38755400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:38755000-38755400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:38755000-38755400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:38755000-38755400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:38755000-38755400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:38755000-38755400	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:38755000-38755400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:38755000-38755400	Active TSS	A549	lung
13	chr2:38755000-38755600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:38755000-38755600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:38755000-38755600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:38755000-38755600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:38755000-38755600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:38755000-38755600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:38755000-38755600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:38755000-38755600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:38755000-38755600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:38755000-38755600	Active TSS	Brain Germinal Matrix	brain
23	chr2:38755000-38755600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr2:38755000-38755600	Active TSS	Psoas Muscle	Psoas
25	chr2:38755000-38755600	Active TSS	Right Ventricle	heart
26	chr2:38755000-38755600	Active TSS	HSMMtube	muscle
27	chr2:38755000-38755600	Active TSS	HUVEC	blood vessel
28	chr2:38755000-38755600	Active TSS	NHDF-Ad	bronchial
29	chr2:38755000-38755800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:38755000-38755800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:38755000-38755800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:38755000-38755800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:38755000-38755800	Active TSS	Brain Angular Gyrus	brain
34	chr2:38755000-38755800	Active TSS	Brain Anterior Caudate	brain
35	chr2:38755000-38755800	Active TSS	Brain Cingulate Gyrus	brain
36	chr2:38755000-38755800	Active TSS	Brain Hippocampus Middle	brain
37	chr2:38755000-38755800	Active TSS	Fetal Brain Female	brain
38	chr2:38755000-38755800	Active TSS	Fetal Muscle Leg	muscle
39	chr2:38755000-38755800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:38755000-38755800	Active TSS	NHEK	skin
41	chr2:38755000-38756000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:38755000-38756000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:38755000-38756000	Active TSS	Stomach Smooth Muscle	stomach
44	chr2:38755200-38755400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:38755200-38755400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:38755200-38755400	Active TSS	Primary B cells from cord blood	blood
47	chr2:38755200-38755400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
48	chr2:38755200-38755400	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:38755200-38755400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr2:38755200-38755400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood

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