Variant report

Variant	rs323870
Chromosome Location	chr3:51979185-51979186
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51976909..51979243-chr3:51994383..51996203,2	MCF-7	breast:
2	chr3:51974147..51980389-chr3:52024451..52030996,12	K562	blood:
3	chr3:51976676..51979243-chr3:51995471..51997610,2	K562	blood:
4	chr3:51978186..51980249-chr3:52021507..52023426,2	K562	blood:
5	chr3:51976078..51979243-chr3:51993727..51997610,4	K562	blood:
6	chr3:51976428..51980212-chr3:52001978..52006587,6	MCF-7	breast:
7	chr3:51978894..51981977-chr3:52001614..52003382,3	MCF-7	breast:
8	chr3:51977575..51979816-chr3:51980206..51981763,2	K562	blood:
9	chr3:51976344..51977998-chr3:51978167..51981813,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248487	Chromatin interaction
ENSG00000162244	Chromatin interaction
ENSG00000243989	Chromatin interaction
ENSG00000090097	Chromatin interaction
ENSG00000041880	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs178918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323865	0.81[YRI][hapmap]
rs323867	0.81[YRI][hapmap]
rs323869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323872	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323878	1.00[AMR][1000 genomes]
rs323880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323889	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323891	1.00[AMR][1000 genomes]
rs323896	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs323900	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs422304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56746340	1.00[AMR][1000 genomes]
rs57384151	1.00[AMR][1000 genomes]
rs6446141	1.00[AMR][1000 genomes]
rs72961930	1.00[AMR][1000 genomes]
rs72961999	1.00[AMR][1000 genomes]
rs72964016	1.00[AMR][1000 genomes]
rs7426999	0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7627182	1.00[ASN][1000 genomes]
rs7636204	1.00[AMR][1000 genomes]
rs9683234	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51976800-51980600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51977200-51982000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:51977200-51983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:51977200-51987600	Weak transcription	Brain Substantia Nigra	brain
5	chr3:51977200-51989200	Weak transcription	Ovary	ovary
6	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
7	chr3:51977400-51979400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:51977400-51981600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:51977400-51986200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:51977400-51987200	Weak transcription	Fetal Lung	lung
11	chr3:51977400-51989200	Weak transcription	Esophagus	oesophagus
12	chr3:51977600-51979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:51977600-51979200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:51977600-51979200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:51977600-51979800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:51977600-51981600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:51977600-51981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:51977600-51982200	Weak transcription	NHLF	lung
19	chr3:51977600-51982400	Weak transcription	A549	lung
20	chr3:51977600-51982800	Weak transcription	GM12878-XiMat	blood
21	chr3:51977600-51983400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:51977600-51984400	Weak transcription	HepG2	liver
23	chr3:51977600-51986000	Weak transcription	Fetal Intestine Large	intestine
24	chr3:51977600-51987200	Weak transcription	HSMMtube	muscle
25	chr3:51977600-51987600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:51977600-51987600	Weak transcription	HSMM	muscle
27	chr3:51977600-51989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:51977600-51989000	Weak transcription	Pancreas	Pancrea
29	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
30	chr3:51977800-51980400	Strong transcription	Right Ventricle	heart
31	chr3:51977800-51981600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:51977800-51983600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:51977800-51984000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:51977800-51985600	Weak transcription	Stomach Mucosa	stomach
35	chr3:51977800-51986000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:51977800-51987200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:51977800-51987800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:51978000-51982200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:51978200-51980400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:51978200-51980600	Strong transcription	Gastric	stomach
42	chr3:51978200-51980600	Strong transcription	Osteobl	bone
43	chr3:51978200-51982400	Strong transcription	Fetal Intestine Small	intestine
44	chr3:51978200-51983400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr3:51978200-51983600	Strong transcription	Fetal Stomach	stomach
46	chr3:51978200-51983600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:51978200-51983600	Strong transcription	Spleen	Spleen
48	chr3:51978200-51983800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:51978200-51984200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:51978400-51979600	Strong transcription	Fetal Muscle Leg	muscle

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