Variant report

Variant	rs34137042
Chromosome Location	chr2:113305565-113305566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113300113..113302309-chr2:113304266..113305973,2	MCF-7	breast:
2	chr2:113305051..113306715-chr2:113310169..113312769,2	K562	blood:
3	chr2:113303031..113306151-chr2:113306991..113309484,3	K562	blood:
4	chr2:113252098..113253969-chr2:113305095..113307068,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13015822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13018087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34117931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35684403	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66571556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34137042	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113301200-113307200	Weak transcription	HSMMtube	muscle
2	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
3	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113301400-113308800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:113301400-113308800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:113301400-113310000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:113301400-113326200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:113301600-113307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:113301600-113308800	Weak transcription	Small Intestine	intestine
10	chr2:113301600-113316800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:113301600-113316800	Weak transcription	Stomach Mucosa	stomach
12	chr2:113301600-113325400	Weak transcription	Fetal Brain Male	brain
13	chr2:113301600-113325400	Weak transcription	Fetal Heart	heart
14	chr2:113303000-113320200	Strong transcription	K562	blood
15	chr2:113303000-113325400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:113303000-113325600	Strong transcription	Primary T cells from cord blood	blood
17	chr2:113303000-113334400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:113303000-113334400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:113303000-113335200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:113303200-113313200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:113303200-113320200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:113303200-113334200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:113303200-113334600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:113303400-113306400	Strong transcription	HepG2	liver
25	chr2:113303400-113308200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:113303400-113320200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:113303400-113320200	Strong transcription	Fetal Intestine Large	intestine
28	chr2:113303400-113326200	Strong transcription	Primary B cells from cord blood	blood
29	chr2:113303400-113334400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:113303400-113334600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:113303600-113306000	Strong transcription	Esophagus	oesophagus
32	chr2:113303600-113306400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr2:113303600-113306400	Strong transcription	Brain Germinal Matrix	brain
34	chr2:113303600-113306600	Genic enhancers	Liver	Liver
35	chr2:113303600-113311600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:113303600-113313400	Strong transcription	Brain Hippocampus Middle	brain
37	chr2:113303600-113314200	Strong transcription	NHEK	skin
38	chr2:113303600-113317000	Strong transcription	HUVEC	blood vessel
39	chr2:113303600-113317400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:113303600-113319800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:113303600-113320200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:113303600-113320400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:113303600-113320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:113303600-113324400	Strong transcription	Fetal Brain Female	brain
45	chr2:113303600-113325400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:113303600-113325400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:113303600-113325800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:113303600-113326400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:113303600-113326600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:113303600-113334000	Strong transcription	Rectal Mucosa Donor 29	rectum

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