Variant report

Variant	rs61423399
Chromosome Location	chr7:100195538-100195539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100193442..100195909-chr7:100285577..100288425,2	MCF-7	breast:
2	chr7:100191640..100194226-chr7:100194621..100197641,3	K562	blood:
3	chr7:100192686..100194226-chr7:100194621..100197457,2	K562	blood:
4	chr7:100182147..100186968-chr7:100192641..100197683,8	K562	blood:

Variant related genes	Relation type
ENSG00000146830	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56854887	1.00[AMR][1000 genomes]
rs58742225	1.00[AMR][1000 genomes]
rs59009660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61385156	1.00[AMR][1000 genomes]
rs61679952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711116	1.00[AMR][1000 genomes]
rs73711117	1.00[AMR][1000 genomes]
rs73711124	1.00[AMR][1000 genomes]
rs73711138	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100185000-100197600	Weak transcription	Ovary	ovary
2	chr7:100188000-100198800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:100188400-100197800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:100188600-100197600	Weak transcription	Placenta	Placenta
5	chr7:100188600-100199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:100188600-100199800	Weak transcription	Right Atrium	heart
7	chr7:100188600-100201400	Weak transcription	Spleen	Spleen
8	chr7:100189200-100197000	Strong transcription	Fetal Stomach	stomach
9	chr7:100189200-100197600	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:100189200-100199000	Weak transcription	Fetal Lung	lung
11	chr7:100190800-100197200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100192200-100197600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:100192400-100197200	Weak transcription	Fetal Intestine Small	intestine
14	chr7:100192800-100197400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:100192800-100199000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:100193400-100199000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:100193600-100199200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:100194200-100197600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:100194200-100198000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:100194400-100196000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:100194400-100196200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:100194800-100199000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:100194800-100199800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:100194800-100201000	Weak transcription	Fetal Heart	heart
25	chr7:100195000-100195800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:100195000-100196000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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