Variant report

Variant	rs4730837
Chromosome Location	chr7:117854117-117854118
allele	C/G/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	YY1	chr7:117854076-117854937	SK-N-SH_RA	brain:	n/a	n/a
2	MAX	chr7:117854001-117854977	SK-N-SH	brain:	n/a	n/a
3	MAX	chr7:117854056-117855059	SK-N-SH	brain:	n/a	n/a
4	YY1	chr7:117854069-117854922	SK-N-SH_RA	brain:	n/a	n/a
5	MAX	chr7:117853996-117855041	A549	lung:	n/a	n/a
6	MXI1	chr7:117854004-117854816	IMR90	lung:	n/a	n/a
7	NRF1	chr7:117854013-117855543	SK-N-SH	brain:	n/a	chr7:117854689-117854698 chr7:117854684-117854698 chr7:117854687-117854696 chr7:117854687-117854698 chr7:117854687-117854701
8	POLR2A	chr7:117854094-117855027	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117851686..117854331-chr7:117855579..117858134,2	K562	blood:
2	chr7:117851576..117854331-chr7:117855447..117858134,2	K562	blood:

Variant related genes	Relation type
ANKRD7	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1015782	0.85[EUR][1000 genomes]
rs10247768	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10487392	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11487110	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs11542074	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11974039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11983651	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12154684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12670769	0.82[EUR][1000 genomes]
rs1544583	0.93[EUR][1000 genomes]
rs1544584	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17140984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17141053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041527	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2058418	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2215628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286863	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs28260	0.82[EUR][1000 genomes]
rs33924981	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34010516	0.93[EUR][1000 genomes]
rs34019303	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35218902	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35485182	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41903	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41904	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41912	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41921	0.85[EUR][1000 genomes]
rs41923	0.86[EUR][1000 genomes]
rs41924	0.86[EUR][1000 genomes]
rs41925	0.82[EUR][1000 genomes]
rs41930	0.85[EUR][1000 genomes]
rs41931	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41936	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41962	0.83[EUR][1000 genomes]
rs41989	0.83[EUR][1000 genomes]
rs4260839	0.80[EUR][1000 genomes]
rs45604739	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5002232	0.84[EUR][1000 genomes]
rs57308869	0.82[ASN][1000 genomes]
rs61328879	0.82[EUR][1000 genomes]
rs62466471	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62466515	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62468297	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62469806	0.90[EUR][1000 genomes]
rs6466643	0.81[EUR][1000 genomes]
rs6466648	0.85[EUR][1000 genomes]
rs6942513	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs769435	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7786233	0.93[CEU][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7801976	0.86[EUR][1000 genomes]
rs9641593	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9656259	0.85[EUR][1000 genomes]
rs992035	0.84[CEU][hapmap];0.82[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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4730837	LSM8	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117854000-117854200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:117854000-117854200	Bivalent Enhancer	Primary B cells from cord blood	blood
3	chr7:117854000-117854200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
4	chr7:117854000-117854200	Active TSS	Primary hematopoietic stem cells	blood
5	chr7:117854000-117854200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr7:117854000-117854200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:117854000-117854200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:117854000-117854200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
9	chr7:117854000-117854200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:117854000-117854200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr7:117854000-117854200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:117854000-117854200	Flanking Active TSS	Fetal Lung	lung
13	chr7:117854000-117854200	Flanking Active TSS	Ovary	ovary
14	chr7:117854000-117854200	Flanking Active TSS	Pancreas	Pancrea
15	chr7:117854000-117854200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr7:117854000-117854200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr7:117854000-117854200	Enhancers	Small Intestine	intestine
18	chr7:117854000-117854200	Flanking Active TSS	HSMM	muscle
19	chr7:117854000-117854200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
20	chr7:117854000-117854400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:117854000-117854400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:117854000-117854400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:117854000-117854400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:117854000-117854400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:117854000-117854400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:117854000-117854400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:117854000-117854400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:117854000-117854400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:117854000-117854400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:117854000-117854400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr7:117854000-117854400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:117854000-117854400	Flanking Active TSS	Esophagus	oesophagus
33	chr7:117854000-117854400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr7:117854000-117854400	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr7:117854000-117854400	Flanking Active TSS	Left Ventricle	heart
36	chr7:117854000-117854400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr7:117854000-117854400	Flanking Active TSS	Dnd41	blood
38	chr7:117854000-117854400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr7:117854000-117854600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr7:117854000-117854600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:117854000-117854600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:117854000-117854600	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr7:117854000-117854600	Flanking Active TSS	Fetal Thymus	thymus
44	chr7:117854000-117854600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:117854000-117854600	Active TSS	Thymus	Thymus
46	chr7:117854000-117854600	Flanking Active TSS	GM12878-XiMat	blood
47	chr7:117854000-117854600	Active TSS	HMEC	breast
48	chr7:117854000-117854600	Flanking Active TSS	NHEK	skin
49	chr7:117854000-117854800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:117854000-117854800	Active TSS	Brain Substantia Nigra	brain

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