Variant report

Variant	rs34267509
Chromosome Location	chr1:46814720-46814721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46763061..46775715-chr1:46803221..46815018,50	K562	blood:
2	chr1:46763061..46775205-chr1:46803159..46817121,53	K562	blood:
3	chr1:46804821..46808263-chr1:46810401..46814880,8	MCF-7	breast:
4	chr1:46813919..46815528-chr1:46820664..46823527,3	K562	blood:
5	chr1:46811114..46815491-chr1:46820924..46824647,4	K562	blood:
6	chr1:46813651..46815431-chr1:46818559..46820189,2	K562	blood:
7	chr1:46814398..46816106-chr1:46832657..46834192,2	K562	blood:

Variant related genes	Relation type
ENSG00000132128	Chromatin interaction
ENSG00000173660	Chromatin interaction
ENSG00000117481	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1267305	1.00[ASN][1000 genomes]
rs35593017	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45586133	1.00[AFR][1000 genomes]
rs6429603	1.00[ASN][1000 genomes]
rs71638008	1.00[ASN][1000 genomes]
rs746878	1.00[ASN][1000 genomes]

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	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv159955	chr1:46813543-46820327	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46807000-46827200	Weak transcription	Fetal Brain Male	brain
2	chr1:46807200-46818400	Weak transcription	Small Intestine	intestine
3	chr1:46807200-46827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:46807400-46815200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:46807400-46820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:46807400-46831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:46807400-46832200	Strong transcription	Fetal Stomach	stomach
8	chr1:46807600-46815200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:46807600-46815200	Weak transcription	Psoas Muscle	Psoas
10	chr1:46807600-46835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:46807600-46844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:46807800-46815400	Weak transcription	Stomach Mucosa	stomach
13	chr1:46807800-46816000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:46807800-46816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:46807800-46823200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:46807800-46824600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:46807800-46835000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:46808200-46816800	Strong transcription	NHEK	skin
19	chr1:46808200-46821600	Weak transcription	Right Atrium	heart
20	chr1:46808400-46816800	Strong transcription	Primary T cells from cord blood	blood
21	chr1:46808400-46816800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:46808400-46817000	Strong transcription	Lung	lung
23	chr1:46808600-46822200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:46808600-46831800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:46808600-46834600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:46808800-46816800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:46808800-46817000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:46808800-46823400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:46808800-46825200	Strong transcription	Placenta	Placenta
30	chr1:46809000-46816800	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr1:46809000-46817200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:46809200-46817000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:46809200-46831600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:46809200-46848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:46809400-46816600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:46809400-46816800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:46809400-46823800	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:46809600-46816600	Strong transcription	Osteobl	bone
39	chr1:46809600-46816800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:46809600-46823200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:46810000-46815600	Strong transcription	Ovary	ovary
42	chr1:46810000-46816800	Strong transcription	Dnd41	blood
43	chr1:46810000-46822600	Weak transcription	Fetal Heart	heart
44	chr1:46810200-46816600	Strong transcription	Fetal Lung	lung
45	chr1:46810200-46817000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:46810200-46817000	Strong transcription	Left Ventricle	heart
47	chr1:46810200-46831600	Strong transcription	Fetal Thymus	thymus
48	chr1:46810400-46832800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:46810800-46820800	Weak transcription	Aorta	Aorta
50	chr1:46811000-46815200	Weak transcription	Colonic Mucosa	Colon

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