Variant report

Variant	rs7681265
Chromosome Location	chr4:110391962-110391963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110389995..110392572-chr4:110735459..110736997,2	K562	blood:
2	chr4:110391073..110393458-chr4:110395121..110397973,3	K562	blood:
3	chr4:110384184..110389120-chr4:110389509..110396492,10	K562	blood:
4	chr4:110388654..110390254-chr4:110391943..110393915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109534	Chromatin interaction
ENSG00000272795	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10003981	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10005225	1.00[EUR][1000 genomes]
rs10008457	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10009463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011971	1.00[EUR][1000 genomes]
rs10016533	0.94[LWK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs10020652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030694	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040433	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040466	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040486	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17040498	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040565	1.00[CEU][hapmap]
rs28412073	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28541279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595287	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28597954	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57705376	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533431	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533432	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6830772	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6834714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837083	1.00[EUR][1000 genomes]
rs6838597	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852062	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898791	1.00[EUR][1000 genomes]
rs7665738	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7667502	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677736	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7685647	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7697001	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997563	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110371400-110393200	Weak transcription	Stomach Mucosa	stomach
3	chr4:110371600-110393400	Weak transcription	HSMMtube	muscle
4	chr4:110378800-110415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:110383400-110396000	Strong transcription	Fetal Thymus	thymus
6	chr4:110383400-110397600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr4:110383600-110392000	Strong transcription	HSMM	muscle
8	chr4:110384800-110392800	Weak transcription	Hela-S3	cervix
9	chr4:110384800-110399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:110384800-110401000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:110385000-110393000	Weak transcription	A549	lung
12	chr4:110385200-110392000	Weak transcription	NHEK	skin
13	chr4:110385400-110402800	Weak transcription	Brain Germinal Matrix	brain
14	chr4:110385400-110403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:110385600-110392200	Weak transcription	Left Ventricle	heart
16	chr4:110385600-110415800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:110385600-110415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:110385600-110415800	Weak transcription	Esophagus	oesophagus
19	chr4:110385800-110393400	Weak transcription	Aorta	Aorta
20	chr4:110385800-110398200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:110385800-110415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:110385800-110415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:110385800-110415800	Weak transcription	Colonic Mucosa	Colon
24	chr4:110386000-110393000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:110386000-110395200	Weak transcription	Fetal Kidney	kidney
26	chr4:110386000-110415800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:110386200-110393000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:110386200-110393200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:110386200-110415800	Weak transcription	Lung	lung
30	chr4:110386200-110415800	Weak transcription	Spleen	Spleen
31	chr4:110386400-110398400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:110386400-110413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:110386400-110415600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:110386400-110415800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:110386600-110392400	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:110386600-110392800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:110386600-110393400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:110386600-110396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:110386600-110402400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:110386600-110415600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:110386800-110392800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:110386800-110392800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:110386800-110392800	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:110386800-110392800	Weak transcription	K562	blood
45	chr4:110386800-110393200	Weak transcription	Adipose Nuclei	Adipose
46	chr4:110386800-110394800	Weak transcription	Primary T cells from cord blood	blood
47	chr4:110386800-110398000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:110386800-110402400	Weak transcription	Fetal Lung	lung
49	chr4:110386800-110405200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:110386800-110415600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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