Variant report

Variant	rs414438
Chromosome Location	chr7:101610304-101610305
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101602922..101605689-chr7:101609271..101612139,2	MCF-7	breast:
2	chr7:101456365..101464966-chr7:101609986..101627610,39	MCF-7	breast:
3	chr7:101608777..101611154-chr7:101612762..101615202,2	K562	blood:
4	chr7:101591380..101593397-chr7:101609992..101611735,2	K562	blood:
5	chr7:101605272..101609533-chr7:101610048..101615596,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272219	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2906649	0.82[CHB][hapmap]
rs2970477	0.88[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2970478	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2970493	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2970494	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs385854	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs404284	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs425768	0.84[ASN][1000 genomes]
rs425964	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs427039	0.94[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs433736	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs441601	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs441780	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]

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	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
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101612000	Weak transcription	HepG2	liver
2	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:101586400-101615800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:101586400-101620600	Weak transcription	Adipose Nuclei	Adipose
5	chr7:101591400-101628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
7	chr7:101594800-101612400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:101596200-101615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:101596400-101615800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:101596800-101614200	Weak transcription	K562	blood
11	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:101597200-101621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:101597400-101616400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:101597400-101624800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:101597400-101625400	Weak transcription	NHLF	lung
16	chr7:101597600-101615800	Weak transcription	Primary T cells from cord blood	blood
17	chr7:101597600-101624600	Weak transcription	Hela-S3	cervix
18	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:101598600-101612800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:101598800-101615800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:101599000-101612800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:101599200-101626200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:101601600-101626600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:101601800-101613600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:101601800-101615600	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:101601800-101624400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:101602000-101612200	Weak transcription	GM12878-XiMat	blood
28	chr7:101602600-101621600	Weak transcription	Placenta	Placenta
29	chr7:101602800-101617800	Weak transcription	Fetal Kidney	kidney
30	chr7:101603200-101615600	Weak transcription	Dnd41	blood
31	chr7:101604400-101615800	Weak transcription	Gastric	stomach
32	chr7:101604800-101629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:101605200-101616200	Weak transcription	Liver	Liver
34	chr7:101605200-101616400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:101606000-101613600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:101606200-101612200	Strong transcription	Fetal Intestine Small	intestine
37	chr7:101606600-101610800	Weak transcription	Brain Germinal Matrix	brain
38	chr7:101606600-101617800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:101606800-101615800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:101606800-101628400	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:101607200-101615800	Weak transcription	Thymus	Thymus
42	chr7:101608000-101611200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:101608000-101611400	Strong transcription	Fetal Stomach	stomach
44	chr7:101608200-101611400	Strong transcription	Fetal Intestine Large	intestine
45	chr7:101608200-101626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:101608400-101612800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:101608400-101615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:101608600-101612200	Weak transcription	Fetal Thymus	thymus
49	chr7:101608600-101615800	Weak transcription	Psoas Muscle	Psoas
50	chr7:101608600-101618000	Weak transcription	A549	lung

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