Variant report

Variant	rs2099787
Chromosome Location	chr11:76460473-76460474
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76459617..76462522-chr11:76481019..76482707,2	K562	blood:
2	chr11:76458614..76461290-chr11:76467564..76470157,3	K562	blood:
3	chr11:76445665..76448359-chr11:76459229..76461438,2	K562	blood:
4	chr11:76459642..76462413-chr11:76595448..76597077,2	K562	blood:
5	chr11:76456730..76465168-chr11:76492668..76497012,7	K562	blood:
6	chr11:76458389..76460958-chr11:76461404..76463823,3	K562	blood:

Variant related genes	Relation type
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12099277	1.00[AMR][1000 genomes]
rs60205654	1.00[AMR][1000 genomes]
rs61212057	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61560547	1.00[AMR][1000 genomes]
rs7101546	1.00[AMR][1000 genomes]
rs73501594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv430404	chr11:76436952-76462852	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76446400-76463200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:76450400-76463400	Weak transcription	Right Ventricle	heart
3	chr11:76454800-76461000	Weak transcription	Hela-S3	cervix
4	chr11:76456200-76463200	Weak transcription	NHDF-Ad	bronchial
5	chr11:76456400-76463400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:76456600-76462800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:76457000-76462800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:76457000-76463000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:76457000-76463000	Weak transcription	Placenta	Placenta
10	chr11:76457000-76463400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:76457000-76474600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:76457200-76463200	Weak transcription	Lung	lung
13	chr11:76457200-76463200	Weak transcription	Right Atrium	heart
14	chr11:76457200-76463400	Weak transcription	Left Ventricle	heart
15	chr11:76458000-76461800	Enhancers	Fetal Heart	heart
16	chr11:76458000-76462000	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:76458000-76462200	Enhancers	Fetal Brain Male	brain
18	chr11:76458600-76460600	Enhancers	Fetal Intestine Small	intestine
19	chr11:76458600-76461400	Enhancers	Fetal Stomach	stomach
20	chr11:76458800-76461000	Enhancers	Fetal Intestine Large	intestine
21	chr11:76459000-76469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:76459200-76462800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:76459200-76463000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:76459200-76465000	Enhancers	Stomach Mucosa	stomach
25	chr11:76459400-76461400	Weak transcription	Fetal Brain Female	brain
26	chr11:76459400-76462000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr11:76459400-76463400	Weak transcription	Spleen	Spleen
28	chr11:76459600-76461400	Enhancers	Fetal Muscle Leg	muscle
29	chr11:76459600-76461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:76459600-76462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:76459600-76463200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:76459600-76463200	Weak transcription	Colonic Mucosa	Colon
33	chr11:76459600-76463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:76459600-76463800	Weak transcription	Brain Germinal Matrix	brain
35	chr11:76459800-76460800	Weak transcription	K562	blood
36	chr11:76459800-76461000	Weak transcription	Ovary	ovary
37	chr11:76459800-76463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:76459800-76463000	Weak transcription	A549	lung
39	chr11:76460400-76461000	Enhancers	Small Intestine	intestine
40	chr11:76460400-76461200	Enhancers	Stomach Smooth Muscle	stomach
41	chr11:76460400-76461600	Weak transcription	Rectal Mucosa Donor 31	rectum

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