Variant report

Variant	rs10754533
Chromosome Location	chr1:246959595-246959596
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246951802..246955219-chr1:246959555..246964384,5	K562	blood:
2	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:

Variant related genes	Relation type
ENSG00000227953	Chromatin interaction
ENSG00000223519	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10127783	0.86[CHB][hapmap]
rs10159002	0.88[CHB][hapmap]
rs10754532	0.86[CHB][hapmap]
rs10924820	0.86[CHB][hapmap]
rs10924823	0.86[CHB][hapmap]
rs10924824	0.86[CHB][hapmap]
rs12085330	0.88[CHB][hapmap]
rs12122102	0.86[CHB][hapmap]
rs12132038	0.86[CHB][hapmap]
rs3007316	0.86[CHB][hapmap]
rs3007322	0.88[CHB][hapmap]
rs3007324	0.81[CHB][hapmap]
rs3795463	0.85[CHB][hapmap]
rs3795464	0.93[CHB][hapmap]
rs4244627	0.86[CHB][hapmap]
rs4926459	0.88[CHB][hapmap]
rs6426326	0.88[CHB][hapmap]
rs6664883	0.88[CHB][hapmap]
rs6685364	0.86[CHB][hapmap]
rs7416239	0.86[CHB][hapmap]
rs9426218	0.82[CHB][hapmap]
rs9426271	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv549545	chr1:246936353-246963019	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv525154	chr1:246954166-246963019	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246953400-246961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:246956400-246959800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:246956600-246959800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:246957200-246962400	Weak transcription	Fetal Brain Male	brain
5	chr1:246957800-246962600	Weak transcription	Fetal Brain Female	brain
6	chr1:246958000-246962400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:246958200-246960000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:246958200-246961000	Weak transcription	K562	blood
9	chr1:246958200-246962200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:246958400-246959600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr1:246958400-246966800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:246958600-246961600	Weak transcription	Left Ventricle	heart
13	chr1:246958800-246959800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:246958800-246959800	Weak transcription	Lung	lung
15	chr1:246958800-246960600	Weak transcription	Placenta	Placenta
16	chr1:246958800-246961800	Weak transcription	Psoas Muscle	Psoas
17	chr1:246958800-246962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:246959000-246959600	Flanking Bivalent TSS/Enh	NHEK	skin
19	chr1:246959000-246961000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:246959000-246961200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:246959000-246961600	Weak transcription	Right Ventricle	heart
22	chr1:246959000-246961600	Weak transcription	HSMM	muscle
23	chr1:246959200-246959600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:246959200-246961000	Weak transcription	HSMMtube	muscle
25	chr1:246959200-246961600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:246959200-246962200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:246959400-246959600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr1:246959400-246959600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:246959400-246962000	Weak transcription	Fetal Heart	heart
30	chr1:246959400-246962200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:246959400-246962400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:246959400-246962600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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