Variant report

Variant	rs553961227
Chromosome Location	chr7:12842784-12842785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12818300..12820351-chr7:12841940..12843743,2	K562	blood:
2	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
3	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606236	chr7:12791487-12846898	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv521756	chr7:12840090-12852124	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	nsv1027806	chr7:12842708-12875714	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12838400-12844200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:12839000-12845600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:12839800-12843000	Enhancers	Fetal Intestine Small	intestine
4	chr7:12840000-12843400	Enhancers	Fetal Intestine Large	intestine
5	chr7:12840200-12843000	Enhancers	HMEC	breast
6	chr7:12840200-12843000	Enhancers	NHEK	skin
7	chr7:12840200-12843400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:12840400-12842800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12840600-12842800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:12841000-12842800	Enhancers	Hela-S3	cervix
11	chr7:12841000-12845000	Weak transcription	Right Atrium	heart
12	chr7:12841400-12843600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:12841600-12842800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:12842000-12842800	Enhancers	Stomach Mucosa	stomach
15	chr7:12842200-12843400	Weak transcription	Esophagus	oesophagus
16	chr7:12842400-12843200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:12842400-12844800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:12842400-12845200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:12842600-12844200	Weak transcription	K562	blood
20	chr7:12842600-12844800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:12842600-12844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:12842600-12848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:12842600-12849200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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