Variant report

Variant	rs35342983
Chromosome Location	chr3:52256805-52256806
allele	C/T
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	chr3:52255532..52258795-chr3:52273134..52275262,3	K562	blood:
2	chr3:52255588..52257621-chr3:52273304..52275120,2	MCF-7	breast:
3	chr3:52252686..52254368-chr3:52255017..52257064,2	K562	blood:
4	chr3:52255294..52257505-chr3:52260666..52263088,3	K562	blood:
5	chr3:52254877..52257716-chr3:52310306..52313604,3	MCF-7	breast:
6	chr3:52224275..52227049-chr3:52256211..52258351,2	K562	blood:
7	chr3:52254575..52260127-chr3:52268899..52275262,6	K562	blood:
8	chr3:52253477..52257891-chr3:52262845..52266465,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247596	Chromatin interaction
ENSG00000173366	Chromatin interaction
ENSG00000239732	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000243224	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28997577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35338461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35491443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35654187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41292366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55921270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326215	1.00[EUR][1000 genomes]
rs5743845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61729402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61729450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61734637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61734643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61734653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61736838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61749019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
4	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv508218	chr3:52155869-52290410	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
8	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
9	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
10	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
11	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
12	nsv482084	chr3:52255098-52260179	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52247200-52263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:52247800-52272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:52249600-52263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:52249800-52262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:52249800-52262400	Weak transcription	Aorta	Aorta
6	chr3:52250000-52261400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:52250000-52261800	Weak transcription	Brain Germinal Matrix	brain
8	chr3:52250000-52262200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:52250000-52262600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:52250200-52257800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:52250200-52262800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:52250600-52257000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:52250600-52257600	Genic enhancers	Primary B cells from cord blood	blood
14	chr3:52250600-52258200	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr3:52251000-52261800	Weak transcription	Fetal Brain Female	brain
16	chr3:52251000-52266600	Weak transcription	Fetal Brain Male	brain
17	chr3:52251200-52262200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:52251400-52262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:52251400-52263200	Weak transcription	A549	lung
20	chr3:52251600-52259800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:52251600-52261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:52251600-52261800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:52251600-52262400	Weak transcription	NHLF	lung
24	chr3:52251600-52262400	Weak transcription	Osteobl	bone
25	chr3:52251600-52262800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:52251600-52262800	Weak transcription	NHDF-Ad	bronchial
27	chr3:52251600-52263600	Weak transcription	HSMM	muscle
28	chr3:52251600-52264200	Weak transcription	HSMMtube	muscle
29	chr3:52251600-52266600	Weak transcription	Psoas Muscle	Psoas
30	chr3:52252200-52261400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:52252200-52261800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:52253000-52259600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:52253000-52262000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:52253000-52262800	Weak transcription	Small Intestine	intestine
35	chr3:52253200-52261800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:52253200-52263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:52253200-52269600	Weak transcription	Fetal Kidney	kidney
38	chr3:52253400-52262400	Weak transcription	NH-A	brain
39	chr3:52253400-52263400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:52253400-52264400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:52253600-52259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:52253800-52263200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:52254000-52263000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:52254400-52257000	Enhancers	Duodenum Mucosa	Duodenum
45	chr3:52254800-52258400	Genic enhancers	Spleen	Spleen
46	chr3:52254800-52261400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:52255000-52257800	Weak transcription	Dnd41	blood
48	chr3:52255000-52258000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:52255000-52258200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr3:52255000-52258800	Weak transcription	Primary monocytes fromperipheralblood	blood

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