Variant report

Variant	rs72986323
Chromosome Location	chr3:141597345-141597346
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141455674..141460093-chr3:141592801..141597430,19	MCF-7	breast:
2	chr3:141455466..141460652-chr3:141593125..141598625,15	K562	blood:
3	chr3:141594674..141598943-chr3:141621711..141625603,5	MCF-7	breast:
4	chr3:141455463..141459614-chr3:141593520..141599146,20	K562	blood:
5	chr3:141594460..141597483-chr3:141621419..141624479,3	K562	blood:
6	chr3:141511387..141514014-chr3:141597034..141598647,2	K562	blood:
7	chr3:141452499..141459593-chr3:141591792..141599045,17	MCF-7	breast:
8	chr3:141574992..141577884-chr3:141596784..141598377,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200389	Chromatin interaction
ENSG00000069849	Chromatin interaction
ENSG00000114125	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56979203	1.00[AMR][1000 genomes]
rs58449157	1.00[AMR][1000 genomes]
rs60939446	1.00[AMR][1000 genomes]
rs61327618	1.00[AMR][1000 genomes]
rs72986303	1.00[AMR][1000 genomes]
rs72986333	1.00[AMR][1000 genomes]
rs72986358	1.00[AMR][1000 genomes]
rs72988221	1.00[AMR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3333253	chr3:141585303-141602936	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141593400-141597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:141593400-141597600	Active TSS	Fetal Kidney	kidney
3	chr3:141593400-141597600	Active TSS	HMEC	breast
4	chr3:141593400-141597600	Active TSS	NHLF	lung
5	chr3:141593400-141598000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:141593600-141597600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:141593600-141598400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:141593800-141597400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:141593800-141597400	Active TSS	Stomach Smooth Muscle	stomach
10	chr3:141593800-141597400	Active TSS	HSMMtube	muscle
11	chr3:141593800-141597600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:141593800-141597600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr3:141593800-141597600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:141593800-141597600	Active TSS	Fetal Intestine Large	intestine
15	chr3:141593800-141597600	Active TSS	HSMM	muscle
16	chr3:141593800-141598000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:141593800-141598000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:141593800-141598000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:141593800-141598400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr3:141594000-141597600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:141594000-141597600	Active TSS	Fetal Muscle Leg	muscle
22	chr3:141594000-141597600	Active TSS	Right Ventricle	heart
23	chr3:141594000-141598000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:141594200-141597600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:141594200-141598000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:141594200-141598000	Active TSS	Colonic Mucosa	Colon
27	chr3:141594400-141597400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr3:141594400-141597400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:141594400-141597600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:141594400-141597600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:141594400-141597600	Active TSS	Esophagus	oesophagus
32	chr3:141594400-141597600	Active TSS	Fetal Thymus	thymus
33	chr3:141594400-141597600	Active TSS	Psoas Muscle	Psoas
34	chr3:141594400-141597600	Active TSS	NHEK	skin
35	chr3:141594400-141597800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:141594400-141597800	Active TSS	K562	blood
37	chr3:141594400-141598000	Active TSS	Hela-S3	cervix
38	chr3:141594400-141600400	Active TSS	GM12878-XiMat	blood
39	chr3:141594600-141597400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr3:141595600-141598400	Active TSS	Right Atrium	heart
41	chr3:141596000-141597400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr3:141596000-141598000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:141596200-141597600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:141596200-141597600	Enhancers	Stomach Mucosa	stomach
45	chr3:141596200-141597800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:141596400-141597400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr3:141596400-141597400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:141596400-141597600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:141596400-141597600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:141596400-141597600	Weak transcription	Gastric	stomach

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