Variant report

Variant	rs644723
Chromosome Location	chr7:129107881-129107882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129099938..129101762-chr7:129105861..129110289,3	K562	blood:
2	chr7:129070406..129072792-chr7:129104561..129108089,3	MCF-7	breast:
3	chr7:129075846..129077779-chr7:129107169..129109635,2	MCF-7	breast:
4	chr7:129106613..129108809-chr7:129119853..129122619,2	K562	blood:
5	chr7:129099938..129101762-chr7:129105861..129111774,4	K562	blood:
6	chr7:129106941..129109739-chr7:129249383..129251712,2	K562	blood:

Variant related genes	Relation type
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10954226	0.81[CEU][hapmap]
rs11979476	0.81[CEU][hapmap]
rs11982324	0.81[ASN][1000 genomes]
rs12112374	0.81[CEU][hapmap]
rs12667232	0.85[JPT][hapmap]
rs12671604	0.85[JPT][hapmap]
rs598412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs624118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657528	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs691124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs691435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs691555	0.82[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap]
rs691807	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs692432	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692597	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs692625	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs692697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980385	0.81[CEU][hapmap]
rs712689	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712691	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs753336	0.85[JPT][hapmap]
rs822038	0.80[CHB][hapmap]
rs966481	0.85[JPT][hapmap]

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	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129108400	Weak transcription	Gastric	stomach
2	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
5	chr7:129082600-129108400	Weak transcription	Thymus	Thymus
6	chr7:129083800-129112800	Strong transcription	K562	blood
7	chr7:129089400-129108400	Weak transcription	Fetal Lung	lung
8	chr7:129089400-129110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:129089600-129110200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:129091600-129109200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:129091800-129108800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:129092600-129109200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:129093200-129109400	Weak transcription	Fetal Thymus	thymus
14	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
15	chr7:129094800-129108200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:129095200-129111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:129095400-129109800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:129095400-129115000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:129096400-129109200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:129096800-129108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:129096800-129110200	Weak transcription	Small Intestine	intestine
22	chr7:129096800-129112000	Weak transcription	GM12878-XiMat	blood
23	chr7:129097200-129110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:129097600-129128600	Weak transcription	NH-A	brain
25	chr7:129100400-129113000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:129101000-129109400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:129101400-129109600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:129102200-129124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:129102400-129108200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:129102400-129120400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:129103000-129117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
34	chr7:129103200-129110000	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:129103200-129129600	Weak transcription	Dnd41	blood
36	chr7:129103200-129135400	Weak transcription	HepG2	liver
37	chr7:129104200-129108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:129104400-129109600	Weak transcription	NHLF	lung
40	chr7:129104800-129109000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:129104800-129109400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:129104800-129112000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:129104800-129121200	Weak transcription	Fetal Stomach	stomach
44	chr7:129105000-129108600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:129105400-129127400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:129105800-129108200	Enhancers	HSMMtube	muscle
47	chr7:129106000-129108000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:129106000-129108400	Weak transcription	Placenta	Placenta
49	chr7:129106000-129108800	Genic enhancers	HSMM	muscle
50	chr7:129106200-129108000	Genic enhancers	Muscle Satellite Cultured Cells	--

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