Variant report

Variant	rs1973531
Chromosome Location	chr5:118650964-118650965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr5:118642236..118644459-chr5:118650616..118652758,2	MCF-7	breast:
4	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
5	chr5:118650777..118652964-chr5:118653732..118655303,2	K562	blood:
6	chr5:118650696..118652254-chr5:118657366..118659634,2	K562	blood:

Variant related genes	Relation type
ENSG00000243333	Chromatin interaction
ENSG00000145779	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2112325	0.81[AMR][1000 genomes]
rs28704785	0.80[AMR][1000 genomes];0.93[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:68 , 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	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
12	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
13	chr5:118645000-118651200	Weak transcription	NH-A	brain
14	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:118645400-118652000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr5:118645400-118652000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:118645800-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:118646000-118651400	Enhancers	Thymus	Thymus
20	chr5:118646000-118653400	Weak transcription	Spleen	Spleen
21	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:118646200-118651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:118646200-118653400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:118646400-118651000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:118646600-118651200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:118646800-118651000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:118647000-118651200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:118647000-118651200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:118647000-118651600	Enhancers	Fetal Thymus	thymus
33	chr5:118648000-118653000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:118648400-118651000	Genic enhancers	Primary B cells from cord blood	blood
36	chr5:118648800-118651200	Enhancers	A549	lung
37	chr5:118649000-118651200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:118649000-118652400	Genic enhancers	K562	blood
39	chr5:118649200-118651200	Weak transcription	Hela-S3	cervix
40	chr5:118649200-118656200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:118649400-118651800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:118649600-118651400	Enhancers	Fetal Stomach	stomach
43	chr5:118649600-118651600	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:118649600-118652200	Enhancers	Placenta	Placenta
45	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
46	chr5:118649800-118651200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:118649800-118651200	Weak transcription	NHDF-Ad	bronchial
48	chr5:118650000-118651200	Weak transcription	Stomach Mucosa	stomach
49	chr5:118650000-118651200	Weak transcription	Osteobl	bone
50	chr5:118650000-118651400	Enhancers	Fetal Lung	lung

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