Variant report

Variant	rs10270083
Chromosome Location	chr7:101526248-101526249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101504130..101505908-chr7:101523643..101526336,2	K562	blood:
2	chr7:101526222..101527789-chr7:101530737..101532472,2	K562	blood:
3	chr7:101524538..101530208-chr7:101583819..101590225,13	MCF-7	breast:
4	chr7:101525729..101526362-chr7:101588047..101588871,2	MCF-7	breast:
5	chr7:101522402..101527695-chr7:101541882..101547914,5	MCF-7	breast:
6	chr7:101500051..101501733-chr7:101526046..101528456,2	K562	blood:
7	chr7:101514608..101516122-chr7:101525582..101528029,2	K562	blood:
8	chr7:101524859..101527642-chr7:101545155..101548859,4	K562	blood:
9	chr7:101498446..101503068-chr7:101525023..101527426,4	MCF-7	breast:
10	chr7:101486111..101487639-chr7:101525637..101527848,2	K562	blood:
11	chr7:101512083..101520283-chr7:101521327..101527237,12	K562	blood:
12	chr7:101512988..101516254-chr7:101522807..101526538,9	MCF-7	breast:
13	chr7:101457345..101464020-chr7:101524379..101528846,10	MCF-7	breast:
14	chr7:101526158..101527020-chr7:101615774..101616664,2	MCF-7	breast:
15	chr7:101485853..101487639-chr7:101524397..101527137,2	K562	blood:
16	chr7:101524415..101527254-chr7:101635329..101637588,2	MCF-7	breast:
17	chr7:101512554..101516171-chr7:101524650..101528130,5	MCF-7	breast:
18	chr7:101525729..101526671-chr7:101588047..101588914,2	MCF-7	breast:
19	chr7:101526144..101529822-chr7:101529905..101534800,8	MCF-7	breast:
20	chr7:101525676..101527121-chr7:101647199..101648097,5	MCF-7	breast:
21	chr7:101456951..101464631-chr7:101524079..101528885,15	MCF-7	breast:
22	chr7:101524980..101528234-chr7:101584443..101587218,5	MCF-7	breast:
23	chr7:101504130..101506941-chr7:101522541..101527065,4	K562	blood:
24	chr7:101524654..101529313-chr7:101536956..101539660,5	MCF-7	breast:
25	chr7:101525862..101528715-chr7:101557017..101559763,2	MCF-7	breast:
26	chr7:101524926..101527642-chr7:101546281..101548486,3	K562	blood:
27	chr7:101525260..101527111-chr7:101652933..101654478,2	MCF-7	breast:
28	chr7:101525890..101527612-chr7:101531987..101533703,2	MCF-7	breast:
29	chr7:101499203..101501714-chr7:101524450..101526322,2	MCF-7	breast:
30	chr7:101456319..101459266-chr7:101524450..101526582,4	K562	blood:
31	chr7:101526018..101527121-chr7:101647260..101648089,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2906656	0.86[MEX][hapmap];0.84[TSI][hapmap]
rs2906719	1.00[JPT][hapmap]
rs2906721	0.96[GIH][hapmap];1.00[JPT][hapmap]
rs2906743	1.00[JPT][hapmap]
rs2906748	0.96[GIH][hapmap];1.00[JPT][hapmap]
rs2970463	1.00[JPT][hapmap]
rs2970464	0.96[GIH][hapmap];1.00[JPT][hapmap]
rs2970469	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2970470	0.96[GIH][hapmap];1.00[JPT][hapmap]
rs2970495	0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236558	0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4354243	1.00[JPT][hapmap]
rs4412307	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4727512	0.86[MEX][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10270083	NAPEPLD	cis	parietal	SCAN
rs10270083	ARPC1B	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101514400-101527400	Weak transcription	GM12878-XiMat	blood
2	chr7:101521200-101526400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:101521200-101526400	Enhancers	Left Ventricle	heart
4	chr7:101521200-101526600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:101521200-101526800	Enhancers	Fetal Intestine Large	intestine
6	chr7:101521200-101527000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:101521200-101527600	Enhancers	Placenta	Placenta
8	chr7:101521200-101528800	Enhancers	Fetal Heart	heart
9	chr7:101521600-101527600	Weak transcription	Gastric	stomach
10	chr7:101521800-101527000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:101522400-101526600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:101522800-101526400	Enhancers	Right Atrium	heart
13	chr7:101523000-101526800	Enhancers	Brain Germinal Matrix	brain
14	chr7:101523000-101527000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:101523200-101543200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:101523600-101527000	Enhancers	Stomach Mucosa	stomach
17	chr7:101523600-101527600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:101523600-101528000	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:101523600-101528600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:101523600-101529400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr7:101523600-101529600	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:101523800-101526600	Enhancers	Colonic Mucosa	Colon
23	chr7:101523800-101526600	Enhancers	Fetal Kidney	kidney
24	chr7:101524000-101526400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:101524000-101526800	Enhancers	NHLF	lung
26	chr7:101524000-101527600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:101524000-101527600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:101524000-101527600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:101524400-101526800	Genic enhancers	Fetal Intestine Small	intestine
30	chr7:101524400-101527200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:101524400-101527400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:101524400-101527800	Weak transcription	Thymus	Thymus
33	chr7:101524600-101527200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:101524600-101527400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:101524800-101527600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:101524800-101528200	Weak transcription	Right Ventricle	heart
37	chr7:101525000-101527600	Weak transcription	Primary T cells from cord blood	blood
38	chr7:101525000-101527600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:101525200-101527400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:101525400-101526400	Enhancers	Fetal Muscle Trunk	muscle
41	chr7:101525400-101527000	Enhancers	Fetal Muscle Leg	muscle
42	chr7:101525400-101528000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr7:101525600-101526400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:101525600-101526400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:101525600-101526400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:101525600-101526600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:101525600-101526600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:101525600-101526600	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:101525600-101526800	Enhancers	Small Intestine	intestine
50	chr7:101525600-101526800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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