Variant report

Variant	rs56304100
Chromosome Location	chr2:11822356-11822357
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11606289..11608008-chr2:11821742..11823591,2	MCF-7	breast:
2	chr2:11729479..11730582-chr2:11821969..11822816,4	K562	blood:
3	chr2:11787915..11788629-chr2:11821865..11822474,3	MCF-7	breast:
4	chr2:11680434..11682728-chr2:11821990..11824270,2	MCF-7	breast:
5	chr2:11821899..11822488-chr2:11919078..11919729,2	K562	blood:
6	chr2:11617734..11619010-chr2:11821851..11822584,4	K562	blood:
7	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
8	chr2:11787730..11788579-chr2:11822117..11822781,2	MCF-7	breast:
9	chr2:11782766..11783675-chr2:11821942..11822730,4	MCF-7	breast:
10	chr2:11272435..11273356-chr2:11821946..11822827,2	K562	blood:
11	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:
12	chr2:11821899..11822785-chr2:11919211..11919733,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GREB1-1	chr2:11822317-11823454	ENSG00000228496.1

No data

Variant related genes	Relation type
ENSG00000145063	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000264010	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10929765	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11816400-11823200	Enhancers	Ovary	ovary
2	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
3	chr2:11818200-11822400	Enhancers	Psoas Muscle	Psoas
4	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:11818600-11822600	Enhancers	Pancreas	Pancrea
7	chr2:11818800-11824000	Weak transcription	Spleen	Spleen
8	chr2:11819400-11823000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:11820000-11822800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11820400-11822600	Enhancers	Fetal Intestine Small	intestine
11	chr2:11820600-11822800	Enhancers	Fetal Intestine Large	intestine
12	chr2:11820800-11822600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:11820800-11824400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:11821000-11822400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:11821400-11822600	Flanking Active TSS	HepG2	liver
16	chr2:11821400-11822800	Enhancers	Hela-S3	cervix
17	chr2:11821400-11823000	Enhancers	Brain Hippocampus Middle	brain
18	chr2:11821400-11825600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:11821400-11827800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:11821600-11822400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:11821600-11823600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:11821800-11822600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:11822000-11822400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr2:11822000-11822600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:11822000-11822600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:11822000-11824200	Enhancers	Brain Anterior Caudate	brain
27	chr2:11822200-11822400	Enhancers	NHLF	lung
28	chr2:11822200-11822600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:11822200-11822600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:11822200-11822600	Enhancers	Brain Substantia Nigra	brain
31	chr2:11822200-11822600	Bivalent Enhancer	K562	blood
32	chr2:11822200-11823200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:11822200-11823400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:11822200-11823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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