Variant report

Variant	rs34210297
Chromosome Location	chr8:42753899-42753900
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	SPI1	chr8:42753187-42753929	GM12878	blood:	n/a	chr8:42753577-42753590 chr8:42753581-42753588
2	HCFC1	chr8:42750540-42754260	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr8:42753268-42753927	HL-60	blood:	n/a	chr8:42753577-42753590 chr8:42753581-42753588

No.	Distal block	Cell Line	Cell type
1	chr8:42752902..42755460-chr8:42769700..42772632,2	K562	blood:
2	chr8:42753832..42756744-chr8:42758263..42760158,2	MCF-7	breast:
3	chr8:42695855..42700016-chr8:42746812..42754296,18	MCF-7	breast:
4	chr8:42249815..42251857-chr8:42752794..42754389,2	K562	blood:

Variant related genes	Relation type
RNF170	TF binding region
MIR4469	TF binding region
ENSG00000131931	Chromatin interaction
ENSG00000078668	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1052654	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs11986681	0.92[CEU][hapmap]
rs13248091	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13249741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13251524	1.00[CEU][hapmap]
rs13252221	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13256221	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13257298	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs13260731	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13269584	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13271956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13276426	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13282019	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16891663	0.92[CEU][hapmap]
rs16891667	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17622577	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17622732	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34133016	1.00[AFR][1000 genomes]
rs34143633	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34152125	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34208103	1.00[AFR][1000 genomes]
rs34242561	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34668583	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34742882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34920666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35057982	0.96[EUR][1000 genomes]
rs35168459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35236316	1.00[AFR][1000 genomes]
rs35258203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35316170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35390123	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35441746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35959188	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35970125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35984555	1.00[AFR][1000 genomes]
rs36026629	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4524778	0.98[EUR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515919	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515920	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62517590	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62517594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517595	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62517604	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62517605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62517606	1.00[AMR][1000 genomes]
rs62517626	1.00[AMR][1000 genomes]
rs6999489	0.84[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7014595	0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs71231886	0.89[EUR][1000 genomes]
rs71521598	1.00[AFR][1000 genomes]
rs7829867	0.92[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap]

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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34210297	FGD6	trans	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42750400-42754000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:42750600-42754000	Active TSS	Aorta	Aorta
3	chr8:42750600-42754000	Active TSS	Colonic Mucosa	Colon
4	chr8:42750600-42754200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:42750600-42754400	Active TSS	Psoas Muscle	Psoas
6	chr8:42750800-42754000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:42750800-42754000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:42750800-42754000	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr8:42750800-42754000	Active TSS	NHLF	lung
10	chr8:42750800-42754200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:42750800-42754200	Active TSS	Colon Smooth Muscle	Colon
12	chr8:42751000-42754200	Active TSS	NH-A	brain
13	chr8:42751600-42754000	Active TSS	Thymus	Thymus
14	chr8:42751800-42754000	Active TSS	Right Atrium	heart
15	chr8:42752600-42754000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:42752800-42754000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:42753000-42754000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:42753000-42754000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr8:42753000-42754000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:42753000-42754200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:42753200-42754000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr8:42753200-42754000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:42753200-42754000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr8:42753200-42754000	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr8:42753200-42754000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:42753200-42754000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr8:42753200-42754000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr8:42753200-42754000	Flanking Active TSS	Fetal Brain Female	brain
29	chr8:42753200-42754000	Enhancers	Spleen	Spleen
30	chr8:42753200-42754200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:42753200-42754200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:42753200-42754200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:42753200-42754200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr8:42753200-42754200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr8:42753200-42754200	Flanking Active TSS	K562	blood
36	chr8:42753200-42754600	Flanking Active TSS	Dnd41	blood
37	chr8:42753200-42754800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:42753400-42754000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:42753400-42754000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:42753400-42754000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:42753400-42754000	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr8:42753400-42754000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr8:42753400-42754000	Flanking Active TSS	Hela-S3	cervix
44	chr8:42753400-42754000	Flanking Active TSS	NHEK	skin
45	chr8:42753400-42754200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr8:42753400-42754200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr8:42753400-42754200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:42753400-42754200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:42753400-42754200	Flanking Active TSS	A549	lung
50	chr8:42753400-42754200	Flanking Active TSS	HepG2	liver

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