Variant report

Variant	rs2231174
Chromosome Location	chr7:100247786-100247787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr7:100247627-100248258	GM12878	blood:	n/a	n/a
2	STAT5A	chr7:100247750-100248141	GM12878	blood:	n/a	n/a
3	NFATC1	chr7:100247694-100248177	GM12878	blood:	n/a	n/a
4	PBX3	chr7:100247720-100248164	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100247775-100247852	MCF-7	breast:	n/a	n/a
6	NFATC1	chr7:100247732-100248144	GM12878	blood:	n/a	n/a
7	CEBPB	chr7:100247508-100247836	HepG2	liver:	n/a	n/a
8	BCL3	chr7:100247674-100248153	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:100247775-100247811	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100241245..100242856-chr7:100246941..100249292,2	MCF-7	breast:
2	chr7:100228618..100230639-chr7:100245989..100248037,2	MCF-7	breast:
3	chr7:100244936..100248659-chr7:100302010..100305093,4	MCF-7	breast:
4	chr7:100210802..100213232-chr7:100246943..100248690,2	K562	blood:
5	chr7:100246623..100248795-chr7:100271093..100273897,3	K562	blood:
6	chr7:100247255..100249496-chr7:100290650..100293134,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ACTL6B	TF binding region
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11771206	1.00[MKK][hapmap]
rs221811	0.86[MKK][hapmap]
rs7455925	1.00[MKK][hapmap]

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	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
3	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
4	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
5	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
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv607934	chr7:100240505-100271521	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv3354912	chr7:100245816-100250114	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100238400-100252600	Weak transcription	Gastric	stomach
2	chr7:100240600-100248200	Strong transcription	Fetal Brain Female	brain
3	chr7:100240800-100247800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:100241000-100247800	Weak transcription	Pancreas	Pancrea
5	chr7:100241000-100253200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:100241600-100252400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:100241800-100249800	Strong transcription	Brain Germinal Matrix	brain
8	chr7:100246000-100248200	Enhancers	Placenta	Placenta
9	chr7:100247200-100248200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:100247400-100248000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:100247400-100248000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:100247400-100248000	Active TSS	Spleen	Spleen
13	chr7:100247600-100247800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:100247600-100247800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:100247600-100248000	Bivalent Enhancer	HepG2	liver
16	chr7:100247600-100248200	Enhancers	Esophagus	oesophagus
17	chr7:100247600-100248200	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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