Variant report

Variant	rs7813810
Chromosome Location	chr8:68254242-68254243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:68254216-68256825	H1-neurons	neurons:	n/a	chr8:68254762-68254775
2	POLR2A	chr8:68254212-68254981	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr8:68254120-68257187	IMR90	lung:	n/a	chr8:68255675-68255685 chr8:68255348-68255358
4	IRF1	chr8:68253976-68254789	K562	blood:	n/a	chr8:68254666-68254680 chr8:68254666-68254683 chr8:68254669-68254682 chr8:68254670-68254680
5	MXI1	chr8:68254089-68257254	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:68254009-68255125	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:68234048..68236933-chr8:68252383..68255705,3	K562	blood:
2	chr8:68235566..68237171-chr8:68253913..68255894,2	MCF-7	breast:
3	chr8:67836952..67838627-chr8:68252890..68255537,2	K562	blood:

Variant related genes	Relation type
ENSG00000271966	TF binding region
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10105795	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10957384	0.85[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11774715	0.88[ASN][1000 genomes]
rs11779287	0.88[ASN][1000 genomes]
rs11986169	0.95[ASN][1000 genomes]
rs11995348	0.83[ASN][1000 genomes]
rs12674570	0.84[ASN][1000 genomes]
rs12674848	0.87[ASN][1000 genomes]
rs12675528	0.95[ASN][1000 genomes]
rs12678025	0.96[ASN][1000 genomes]
rs12679614	0.96[ASN][1000 genomes]
rs12681292	0.82[ASN][1000 genomes]
rs12682412	0.88[ASN][1000 genomes]
rs13253205	0.90[ASN][1000 genomes]
rs13255070	0.86[ASN][1000 genomes]
rs13264289	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267015	0.88[ASN][1000 genomes]
rs13270606	0.89[ASN][1000 genomes]
rs13275593	0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1544986	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs17425781	0.81[ASN][1000 genomes]
rs1821026	0.96[ASN][1000 genomes]
rs2116130	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28640047	0.96[ASN][1000 genomes]
rs34132973	0.87[ASN][1000 genomes]
rs34345865	0.84[ASN][1000 genomes]
rs34711984	0.84[ASN][1000 genomes]
rs35480743	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs35754047	0.88[ASN][1000 genomes]
rs35904049	0.95[ASN][1000 genomes]
rs56186469	0.96[ASN][1000 genomes]
rs57179217	0.83[ASN][1000 genomes]
rs60196076	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6472297	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs68086555	0.86[ASN][1000 genomes]
rs6987724	0.95[ASN][1000 genomes]
rs6992604	0.84[ASN][1000 genomes]
rs6993324	0.96[ASN][1000 genomes]
rs7002191	0.87[ASN][1000 genomes]
rs7002622	0.80[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs7013561	0.96[ASN][1000 genomes]
rs718348	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs72654960	0.96[ASN][1000 genomes]
rs7464980	0.88[ASN][1000 genomes]
rs7812777	0.95[ASN][1000 genomes]
rs7812887	0.87[ASN][1000 genomes]
rs7818520	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820370	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822637	0.82[ASN][1000 genomes]
rs7823436	0.96[ASN][1000 genomes]
rs7830183	0.96[ASN][1000 genomes]
rs7841468	0.88[ASN][1000 genomes]
rs7841756	0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7844125	0.96[ASN][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7813810	C8orf34	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
2	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:68227000-68254600	Weak transcription	Thymus	Thymus
5	chr8:68227400-68254600	Weak transcription	Lung	lung
6	chr8:68232200-68254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:68235000-68254400	Weak transcription	Right Atrium	heart
8	chr8:68243800-68254400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:68243800-68254400	Weak transcription	Psoas Muscle	Psoas
10	chr8:68245000-68254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:68249800-68254400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:68249800-68254600	Weak transcription	Spleen	Spleen
13	chr8:68250000-68254600	Weak transcription	Gastric	stomach
14	chr8:68250800-68254400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr8:68251400-68254400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:68251600-68254400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:68251600-68254400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:68251600-68254600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:68251600-68254800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:68252000-68254400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:68252200-68254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:68252400-68254400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:68252800-68254400	Enhancers	Brain Angular Gyrus	brain
24	chr8:68252800-68254400	Enhancers	Colon Smooth Muscle	Colon
25	chr8:68252800-68254400	Weak transcription	Left Ventricle	heart
26	chr8:68253000-68254400	Weak transcription	Colonic Mucosa	Colon
27	chr8:68253000-68254400	Enhancers	Fetal Heart	heart
28	chr8:68253000-68254400	Enhancers	Rectal Smooth Muscle	rectum
29	chr8:68253000-68254600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:68253000-68254600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:68253000-68254600	Weak transcription	Aorta	Aorta
32	chr8:68253200-68254400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:68253200-68254400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:68253200-68254400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:68253200-68254400	Weak transcription	Placenta	Placenta
36	chr8:68253200-68254400	Weak transcription	Small Intestine	intestine
37	chr8:68253200-68254400	Weak transcription	Stomach Mucosa	stomach
38	chr8:68253200-68254600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:68253200-68257400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:68253400-68254400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:68253400-68254400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:68253400-68254400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:68253400-68254400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:68253400-68254400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:68253400-68254400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:68253400-68254400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:68253400-68254400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:68253400-68254400	Weak transcription	Right Ventricle	heart
49	chr8:68253400-68254400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:68253400-68254400	Enhancers	Dnd41	blood

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