Variant report

Variant	rs6969054
Chromosome Location	chr7:102446569-102446570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102446461..102450682-chr7:102452402..102456233,5	K562	blood:
2	chr7:102445308..102447740-chr7:102490751..102492572,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10227402	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10228495	0.90[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.95[ASN][1000 genomes]
rs10233721	0.81[AMR][1000 genomes]
rs10241865	0.95[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10242028	0.95[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10257317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271157	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10271184	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10273725	0.81[JPT][hapmap]
rs10279449	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953374	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11514917	0.81[JPT][hapmap]
rs11978799	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11981980	0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12537977	0.81[JPT][hapmap]
rs12668434	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs13233521	0.81[JPT][hapmap]
rs13242493	0.81[JPT][hapmap]
rs1541519	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17136090	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2411046	0.93[CEU][hapmap];0.85[YRI][hapmap]
rs2411056	0.84[ASN][1000 genomes]
rs41501847	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4620204	0.81[JPT][hapmap]
rs56269620	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57253646	0.92[ASN][1000 genomes]
rs59544295	0.84[ASN][1000 genomes]
rs59709436	0.84[ASN][1000 genomes]
rs6465873	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6465876	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465878	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs6465880	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6946773	0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6947403	0.81[JPT][hapmap]
rs6949391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953980	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6960428	0.81[JPT][hapmap]
rs6975388	0.95[ASN][1000 genomes]
rs7778418	0.95[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7779145	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7780981	0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7782908	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7794668	0.95[CEU][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7800387	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7800548	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7804322	0.84[ASN][1000 genomes]
rs847647	0.81[JPT][hapmap]
rs847648	0.81[CHB][hapmap]
rs847649	0.81[JPT][hapmap]
rs847656	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
3	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats 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 target site	33 gene(s)	inside rSNPs	diseases
9	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102390800-102448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102391600-102448600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:102416400-102467600	Weak transcription	Brain Anterior Caudate	brain
4	chr7:102419600-102454200	Weak transcription	Osteobl	bone
5	chr7:102419600-102456000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:102419800-102454000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:102420400-102448600	Weak transcription	K562	blood
8	chr7:102420800-102449000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:102421600-102449000	Weak transcription	Liver	Liver
10	chr7:102421600-102452000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:102421600-102475600	Weak transcription	Fetal Thymus	thymus
12	chr7:102422000-102448800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:102422000-102474800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:102422000-102476000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:102436000-102454000	Weak transcription	NH-A	brain
16	chr7:102437200-102448800	Weak transcription	Fetal Stomach	stomach
17	chr7:102437400-102452000	Weak transcription	HUVEC	blood vessel
18	chr7:102437600-102449200	Weak transcription	Fetal Lung	lung
19	chr7:102439000-102459600	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:102439600-102467400	Weak transcription	Thymus	Thymus
21	chr7:102439800-102463800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:102440400-102449000	Weak transcription	Primary T cells from cord blood	blood
23	chr7:102443000-102451200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:102443800-102459600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:102444400-102463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:102445200-102451000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:102445600-102448800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:102445600-102467600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:102445600-102469200	Weak transcription	Fetal Brain Male	brain
30	chr7:102445800-102448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:102445800-102449000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:102445800-102449000	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:102445800-102467400	Weak transcription	Lung	lung
34	chr7:102446200-102467400	Weak transcription	Primary T cells fromperipheralblood	blood

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