Variant report

Variant	rs73252320
Chromosome Location	chr5:118641465-118641466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118604371..118606788-chr5:118640818..118642448,2	K562	blood:
2	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:
3	chr5:118604371..118606578-chr5:118640818..118642432,2	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10452544	1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs12109360	0.88[AFR][1000 genomes]
rs17144974	1.00[AMR][1000 genomes]
rs57574427	1.00[AMR][1000 genomes]
rs59344448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59473275	1.00[AMR][1000 genomes]
rs59758980	1.00[AMR][1000 genomes]
rs73235231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235244	1.00[AMR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	1.00[AMR][1000 genomes]
rs73248974	1.00[AMR][1000 genomes]
rs73248976	1.00[AMR][1000 genomes]
rs73248978	1.00[AMR][1000 genomes]
rs73248981	1.00[AMR][1000 genomes]
rs73248988	1.00[AMR][1000 genomes]
rs73248995	1.00[AMR][1000 genomes]
rs73250803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250902	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252308	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252311	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252322	1.00[AFR][1000 genomes];1.00[AMR][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:118636800-118641800	Enhancers	HMEC	breast
7	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:118639200-118641600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:118639200-118642000	Enhancers	Hela-S3	cervix
11	chr5:118639200-118643600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:118639200-118643800	Weak transcription	Small Intestine	intestine
13	chr5:118639200-118644000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:118639200-118644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:118639200-118644200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:118639200-118645800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:118639200-118657200	Weak transcription	Lung	lung
19	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:118639400-118641600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr5:118639400-118641600	Weak transcription	Gastric	stomach
22	chr5:118639400-118644600	Weak transcription	HSMMtube	muscle
23	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
24	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
25	chr5:118639600-118643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:118639600-118643800	Enhancers	Primary T cells from cord blood	blood
27	chr5:118639600-118644000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:118640000-118642400	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr5:118640200-118642400	Genic enhancers	Primary B cells from cord blood	blood
31	chr5:118640200-118643400	Weak transcription	Fetal Lung	lung
32	chr5:118640200-118644000	Weak transcription	Placenta	Placenta
33	chr5:118640200-118645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:118640400-118641600	Enhancers	HUVEC	blood vessel
35	chr5:118640400-118641800	Enhancers	A549	lung
36	chr5:118640400-118642800	Enhancers	Fetal Thymus	thymus
37	chr5:118640400-118642800	Weak transcription	GM12878-XiMat	blood
38	chr5:118640400-118643200	Weak transcription	Fetal Heart	heart
39	chr5:118640400-118643600	Weak transcription	Adipose Nuclei	Adipose
40	chr5:118640400-118644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:118640400-118644200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:118640400-118644200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:118640400-118644200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:118640400-118644600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:118640400-118645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
47	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:118640600-118641600	Weak transcription	Stomach Mucosa	stomach
49	chr5:118640600-118641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:118640600-118644000	Enhancers	Primary T helper cells PMA-I stimulated	--

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