Variant report

Variant	rs2304344
Chromosome Location	chr8:103855691-103855692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103854023..103857857-chr8:103866472..103870007,3	MCF-7	breast:
2	chr8:103848125..103852182-chr8:103854378..103856662,4	MCF-7	breast:
3	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
4	chr8:103855582..103858894-chr8:103873911..103878039,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000253385	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11986658	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989703	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12545210	0.89[EUR][1000 genomes]
rs12546520	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12546634	0.80[AMR][1000 genomes]
rs13123	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs2304348	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs4734672	0.81[CHD][hapmap];0.81[GIH][hapmap]
rs4734677	0.86[EUR][1000 genomes]
rs62522580	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62526531	0.91[EUR][1000 genomes]
rs6985891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs72686911	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826791	0.89[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2304344	PCGF2	trans	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
2	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103833000-103858600	Strong transcription	A549	lung
4	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:103834600-103856800	Strong transcription	Osteobl	bone
6	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:103834600-103871200	Strong transcription	K562	blood
8	chr8:103835000-103856600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:103835000-103856800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103835200-103856200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:103835200-103856800	Strong transcription	NHLF	lung
14	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:103835400-103856200	Strong transcription	Placenta	Placenta
17	chr8:103835400-103856600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr8:103835600-103856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:103835600-103856800	Strong transcription	Fetal Thymus	thymus
20	chr8:103835600-103857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:103836000-103856200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:103836200-103856600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:103836200-103868000	Strong transcription	HMEC	breast
29	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:103836600-103856600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:103836600-103856800	Strong transcription	Fetal Intestine Large	intestine
32	chr8:103836600-103858000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr8:103837200-103856200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:103837200-103856800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:103837200-103856800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr8:103837400-103866400	Strong transcription	NHEK	skin
38	chr8:103837600-103856600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:103837600-103856600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:103837600-103867000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:103837600-103870400	Strong transcription	Dnd41	blood
42	chr8:103838000-103856800	Strong transcription	Hela-S3	cervix
43	chr8:103839000-103856800	Strong transcription	NHDF-Ad	bronchial
44	chr8:103839200-103870800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:103839400-103856000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:103839800-103856000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:103840000-103856800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:103840000-103856800	Strong transcription	HepG2	liver
49	chr8:103840200-103857400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:103840400-103855800	Strong transcription	Adipose Nuclei	Adipose

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