Variant report

Variant	rs2970495
Chromosome Location	chr7:101517959-101517960
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101505683..101508584-chr7:101516146..101519244,4	K562	blood:
2	chr7:101499241..101502568-chr7:101516152..101518737,4	K562	blood:
3	chr7:101500513..101502568-chr7:101516152..101518658,2	K562	blood:
4	chr7:101514955..101516644-chr7:101516805..101518338,2	K562	blood:
5	chr7:101456834..101459673-chr7:101517293..101519247,2	MCF-7	breast:
6	chr7:101505683..101508254-chr7:101516347..101519089,2	K562	blood:
7	chr7:100487416..100489348-chr7:101516491..101519278,2	MCF-7	breast:
8	chr7:101241906..101244609-chr7:101517882..101520597,2	MCF-7	breast:
9	chr7:101514433..101518580-chr7:101582721..101585796,4	MCF-7	breast:
10	chr7:101512083..101520283-chr7:101521327..101527237,12	K562	blood:
11	chr7:101512598..101514582-chr7:101516207..101518095,2	K562	blood:

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]
rs10270083	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]
rs2906656	0.86[MEX][hapmap]
rs2906719	1.00[JPT][hapmap]
rs2906721	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2906741	0.89[AMR][1000 genomes]
rs2906743	1.00[JPT][hapmap]
rs2906748	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2970463	1.00[JPT][hapmap]
rs2970464	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2970469	0.92[GIH][hapmap];1.00[JPT][hapmap]
rs2970470	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs4236558	0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs4354243	1.00[JPT][hapmap]
rs4727512	0.86[MEX][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
rs2970495	NAPEPLD	cis	parietal	SCAN
rs2970495	ARPC1B	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101501000-101523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:101504800-101518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:101509000-101522600	Weak transcription	Primary T cells from cord blood	blood
5	chr7:101511600-101519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:101511600-101523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:101511800-101523600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:101512200-101524000	Weak transcription	NHLF	lung
9	chr7:101513200-101523600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr7:101513400-101523400	Weak transcription	Small Intestine	intestine
11	chr7:101513600-101522600	Weak transcription	Liver	Liver
12	chr7:101513600-101525200	Weak transcription	Spleen	Spleen
13	chr7:101513800-101518200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:101514200-101518200	Weak transcription	Brain Anterior Caudate	brain
15	chr7:101514200-101518600	Weak transcription	Stomach Mucosa	stomach
16	chr7:101514200-101521200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:101514200-101522200	Weak transcription	HepG2	liver
18	chr7:101514200-101523800	Weak transcription	Fetal Kidney	kidney
19	chr7:101514400-101521200	Weak transcription	Gastric	stomach
20	chr7:101514400-101521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:101514400-101527400	Weak transcription	GM12878-XiMat	blood
22	chr7:101514600-101518600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:101514600-101524000	Weak transcription	Fetal Stomach	stomach
24	chr7:101514800-101520400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:101514800-101521200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:101514800-101521200	Weak transcription	Fetal Intestine Large	intestine
27	chr7:101514800-101523400	Weak transcription	Hela-S3	cervix
28	chr7:101514800-101523600	Weak transcription	NHEK	skin
29	chr7:101514800-101525200	Weak transcription	Esophagus	oesophagus
30	chr7:101514800-101525400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:101515000-101518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:101515000-101520400	Weak transcription	Right Ventricle	heart
33	chr7:101515000-101521200	Weak transcription	Pancreas	Pancrea
34	chr7:101515000-101521200	Weak transcription	K562	blood
35	chr7:101515200-101518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:101515200-101518800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:101516200-101518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:101516400-101519000	Enhancers	Fetal Muscle Trunk	muscle
39	chr7:101516600-101518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:101516800-101518800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:101517000-101518200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:101517000-101518200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:101517000-101518400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:101517000-101519000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:101517000-101519000	Enhancers	Fetal Muscle Leg	muscle
46	chr7:101517000-101519000	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:101517200-101518000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:101517200-101518000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:101517200-101518000	Enhancers	HSMM	muscle
50	chr7:101517200-101518000	Enhancers	HSMMtube	muscle

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