Variant report

Variant	rs2112325
Chromosome Location	chr5:118651979-118651980
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118620088..118622427-chr5:118650333..118654456,3	K562	blood:
2	chr5:118602770..118605467-chr5:118650194..118652085,2	MCF-7	breast:
3	chr5:118622285..118624506-chr5:118651501..118653957,2	MCF-7	breast:
4	chr5:118651451..118652140-chr5:118670433..118670936,2	MCF-7	breast:
5	chr5:118642236..118644459-chr5:118650616..118652758,2	MCF-7	breast:
6	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
7	chr5:118650777..118652964-chr5:118653732..118655303,2	K562	blood:
8	chr5:118651481..118653005-chr5:118654205..118657121,2	MCF-7	breast:
9	chr5:118650696..118652254-chr5:118657366..118659634,2	K562	blood:
10	chr5:118651201..118652914-chr5:118746753..118748686,2	K562	blood:
11	chr5:118620088..118622247-chr5:118651505..118654456,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction
ENSG00000243333	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1973531	0.81[AMR][1000 genomes]
rs28704785	0.83[EUR][1000 genomes]
rs4895366	0.94[EUR][1000 genomes]
rs7718395	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:118639200-118657200	Weak transcription	Lung	lung
3	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
5	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
10	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
11	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:118645400-118652000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:118645400-118652000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:118645800-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:118646000-118653400	Weak transcription	Spleen	Spleen
17	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:118646200-118653400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:118648000-118653000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:118649000-118652400	Genic enhancers	K562	blood
25	chr5:118649200-118656200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:118649600-118652200	Enhancers	Placenta	Placenta
27	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
28	chr5:118650000-118655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:118650200-118655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:118650200-118657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:118650200-118657600	Weak transcription	Aorta	Aorta
33	chr5:118650400-118655000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:118650600-118653000	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:118651000-118652000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:118651000-118652400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:118651200-118652000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:118651200-118652000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:118651200-118652000	Enhancers	Colon Smooth Muscle	Colon
40	chr5:118651200-118652000	Genic enhancers	A549	lung
41	chr5:118651200-118652000	Enhancers	Hela-S3	cervix
42	chr5:118651200-118652000	Enhancers	HepG2	liver
43	chr5:118651200-118652000	Enhancers	Osteobl	bone
44	chr5:118651200-118652800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:118651200-118653000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:118651400-118652000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr5:118651400-118652200	Enhancers	GM12878-XiMat	blood
48	chr5:118651400-118653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:118651400-118654000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr5:118651400-118654800	Enhancers	Primary B cells from cord blood	blood

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