Variant report

Variant	rs7831515
Chromosome Location	chr8:126132816-126132817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr8:126132645-126133239	SK-N-MC	brain:	n/a	n/a
2	MAFK	chr8:126132656-126132862	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:126132557-126133282	SK-N-MC	brain:	n/a	n/a
4	FOXP2	chr8:126132776-126133122	SK-N-MC	brain:	n/a	n/a
5	MAFK	chr8:126132565-126133028	IMR90	lung:	n/a	chr8:126132898-126132909
6	CEBPB	chr8:126132671-126133196	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:126132799-126133089	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF7L2	chr8:126132767-126133112	HCT-116	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
2	chr8:126132005..126134785-chr8:126149699..126151451,2	K562	blood:
3	chr8:126132393..126134587-chr8:126146402..126148822,2	K562	blood:
4	chr8:126129258..126133273-chr8:126440268..126447620,13	MCF-7	breast:
5	chr8:126132591..126135052-chr8:126136124..126138280,2	K562	blood:

No data

Variant related genes	Relation type
NSMCE2	TF binding region
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10094316	0.80[CHB][hapmap];0.85[GIH][hapmap]
rs10100556	0.80[CHB][hapmap]
rs10106942	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11995484	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384914	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891630	0.85[GIH][hapmap]
rs3860845	0.89[ASW][hapmap]
rs4300023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4330708	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870935	0.80[CHB][hapmap]
rs4871572	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5007394	0.80[CHB][hapmap]
rs6470338	0.80[CHB][hapmap];0.85[GIH][hapmap]
rs6470339	0.80[CHB][hapmap];0.85[GIH][hapmap]
rs6995096	0.80[CHB][hapmap]
rs7017478	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813225	0.80[CHB][hapmap];0.87[GIH][hapmap]
rs7836506	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836761	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
8	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7831515	FER1L6	cis	cerebellum	SCAN
rs7831515	WDR67	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
2	chr8:126117200-126137800	Weak transcription	Esophagus	oesophagus
3	chr8:126117400-126137600	Weak transcription	Spleen	Spleen
4	chr8:126117400-126137800	Weak transcription	Aorta	Aorta
5	chr8:126117400-126137800	Weak transcription	Pancreas	Pancrea
6	chr8:126117400-126138400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:126117400-126140400	Weak transcription	Right Ventricle	heart
8	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
9	chr8:126117800-126137200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:126118000-126137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
13	chr8:126118400-126137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:126120200-126136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:126120400-126136800	Weak transcription	Placenta	Placenta
17	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:126120800-126136800	Weak transcription	Fetal Stomach	stomach
19	chr8:126120800-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:126120800-126137400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:126121000-126142800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:126121400-126136200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:126121800-126137200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:126122000-126136800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:126122200-126137400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:126122800-126133800	Weak transcription	Primary B cells from cord blood	blood
27	chr8:126123200-126136200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:126123600-126136200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:126123600-126136800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:126123600-126137600	Weak transcription	K562	blood
31	chr8:126124400-126137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:126127400-126136800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:126127400-126136800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:126127400-126136800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:126127600-126136600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:126127600-126137400	Weak transcription	HepG2	liver
37	chr8:126127800-126136800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:126128400-126135600	Weak transcription	Dnd41	blood
39	chr8:126128400-126138000	Weak transcription	Lung	lung
40	chr8:126129800-126135200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:126129800-126135600	Weak transcription	Primary T cells from cord blood	blood
42	chr8:126130600-126133200	Enhancers	GM12878-XiMat	blood
43	chr8:126130600-126133400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:126130600-126134200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:126130800-126133200	Enhancers	Fetal Intestine Large	intestine
46	chr8:126130800-126133200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:126130800-126133400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:126130800-126133400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:126130800-126133800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:126131000-126133200	Enhancers	HUES64 Cell Line	embryonic stem cell

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