Variant report

Variant	rs35602492
Chromosome Location	chr7:127666748-127666749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127666110..127669340-chr7:127673259..127677722,5	K562	blood:
2	chr7:127663588..127667936-chr7:127668041..127670204,3	MCF-7	breast:
3	chr7:127666110..127668774-chr7:127674158..127676432,2	K562	blood:
4	chr7:127659087..127661420-chr7:127663957..127667056,3	K562	blood:
5	chr7:127664233..127667371-chr7:127669235..127671920,3	K562	blood:
6	chr7:127663563..127667707-chr7:127669139..127672170,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128594	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12706824	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13223326	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13232846	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13238717	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13240628	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17662800	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17663644	0.89[ASN][1000 genomes]
rs17730185	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17730294	0.82[ASN][1000 genomes]
rs17733783	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34209480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34250605	0.83[ASN][1000 genomes]
rs34393727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34844752	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34874680	0.86[ASN][1000 genomes]
rs34980225	0.89[ASN][1000 genomes]
rs35013916	0.88[EUR][1000 genomes]
rs35246122	0.89[ASN][1000 genomes]
rs35307919	0.89[ASN][1000 genomes]
rs35421080	0.89[ASN][1000 genomes]
rs35521470	0.89[ASN][1000 genomes]
rs35584770	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35585856	0.86[ASN][1000 genomes]
rs35640048	0.82[ASN][1000 genomes]
rs36043097	0.86[ASN][1000 genomes]
rs36046498	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3757762	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808062	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808090	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs58341788	0.89[ASN][1000 genomes]
rs62481384	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62481453	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62483978	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6948752	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737242	0.89[ASN][1000 genomes]
rs7788592	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
2	chr7:127644000-127668800	Weak transcription	Dnd41	blood
3	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:127651800-127668800	Weak transcription	Ovary	ovary
10	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
12	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:127657800-127669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:127658000-127668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:127658800-127668800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
18	chr7:127659000-127667400	Weak transcription	Fetal Kidney	kidney
19	chr7:127660200-127666800	Strong transcription	HepG2	liver
20	chr7:127660400-127667400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127661000-127667400	Weak transcription	Left Ventricle	heart
22	chr7:127661200-127670400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:127661400-127667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:127661600-127667400	Weak transcription	Gastric	stomach
25	chr7:127661600-127668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:127661600-127668800	Weak transcription	Pancreas	Pancrea
27	chr7:127661600-127669000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:127661600-127670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:127661600-127670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:127661800-127666800	Strong transcription	K562	blood
31	chr7:127662200-127669000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:127662800-127668200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:127663000-127669200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:127663200-127669000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:127663200-127671200	Weak transcription	NHLF	lung
36	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
37	chr7:127663400-127666800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:127663400-127667400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:127663400-127667400	Weak transcription	Esophagus	oesophagus
40	chr7:127663400-127668800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:127663400-127669000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:127663400-127669200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:127663400-127669200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:127663600-127667400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:127663600-127670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:127663800-127667400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:127663800-127667400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr7:127663800-127669000	Weak transcription	Hela-S3	cervix
49	chr7:127664200-127666800	Strong transcription	Primary T cells from cord blood	blood
50	chr7:127664200-127670600	Enhancers	Adipose Nuclei	Adipose

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