Variant report

Variant	rs5997687
Chromosome Location	chr22:30968349-30968350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
2	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16988782	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5994323	1.00[AMR][1000 genomes]
rs737952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30960800-30969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:30961400-30969400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:30964400-30970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30964400-30979600	Weak transcription	K562	blood
7	chr22:30964800-30969800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:30965400-30969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:30965600-30968400	Weak transcription	Gastric	stomach
10	chr22:30965600-30971000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:30967000-30968400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:30967000-30968400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr22:30967000-30968400	Enhancers	Fetal Intestine Large	intestine
14	chr22:30967000-30970200	Enhancers	Liver	Liver
15	chr22:30967000-30971600	Enhancers	Placenta	Placenta
16	chr22:30967200-30968600	Enhancers	Brain Angular Gyrus	brain
17	chr22:30967400-30968400	Weak transcription	Colonic Mucosa	Colon
18	chr22:30967600-30970600	Weak transcription	Right Atrium	heart
19	chr22:30967800-30968400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:30967800-30968800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr22:30967800-30968800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr22:30967800-30969400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr22:30967800-30970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:30967800-30970200	Flanking Active TSS	HepG2	liver
25	chr22:30967800-30971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:30968000-30968400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr22:30968000-30968600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr22:30968000-30968800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:30968000-30969600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr22:30968000-30969800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:30968000-30971600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:30968200-30968400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:30968200-30968600	Enhancers	Brain Cingulate Gyrus	brain
34	chr22:30968200-30968800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr22:30968200-30968800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr22:30968200-30968800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr22:30968200-30969000	Enhancers	Fetal Intestine Small	intestine
38	chr22:30968200-30969400	Enhancers	Stomach Mucosa	stomach
39	chr22:30968200-30970000	Flanking Active TSS	A549	lung
40	chr22:30968200-30970200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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