Variant report

Variant	rs35338461
Chromosome Location	chr3:52233295-52233296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52232200..52233751-chr3:52253359..52256256,2	MCF-7	breast:
2	chr3:52230039..52234196-chr3:52236127..52242387,6	K562	blood:
3	chr3:52230792..52233743-chr3:52243721..52245570,2	K562	blood:
4	chr3:52186178..52189000-chr3:52232033..52234935,2	K562	blood:
5	chr3:52186953..52189415-chr3:52231734..52233530,2	K562	blood:
6	chr3:52230839..52233318-chr3:52445063..52446669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000023330	Chromatin interaction
ENSG00000164087	Chromatin interaction
ENSG00000010318	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28997577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35342983	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]
rs41292362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55921270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5743845	1.00[AMR][1000 genomes];1.00[EUR][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]
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:9 , 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	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52231600-52233400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:52231600-52233600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr3:52231800-52233600	Active TSS	Fetal Kidney	kidney
4	chr3:52232000-52233400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr3:52232000-52233400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:52232000-52233600	Active TSS	A549	lung
7	chr3:52232400-52233400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr3:52232400-52233400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr3:52232400-52233400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr3:52232400-52233400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:52232400-52233600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:52232400-52233600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:52232400-52233600	Flanking Active TSS	Fetal Brain Male	brain
14	chr3:52232600-52233400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:52232600-52233400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:52232600-52233400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr3:52232600-52233400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr3:52232600-52233400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:52232600-52233400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:52232600-52233400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:52232600-52233400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:52232600-52233400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr3:52232600-52233400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr3:52232600-52233400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr3:52232600-52233400	Flanking Active TSS	HMEC	breast
26	chr3:52232600-52233400	Flanking Active TSS	HUVEC	blood vessel
27	chr3:52232600-52233400	Flanking Active TSS	Osteobl	bone
28	chr3:52232600-52233600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr3:52232600-52233600	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr3:52232600-52233600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr3:52232600-52233600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:52232600-52233800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr3:52232600-52233800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr3:52232800-52233400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:52232800-52233400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr3:52232800-52233400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:52232800-52233400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:52232800-52233400	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr3:52232800-52233400	Flanking Active TSS	Fetal Lung	lung
40	chr3:52232800-52233400	Flanking Active TSS	NHLF	lung
41	chr3:52232800-52233600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:52232800-52233600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr3:52232800-52233600	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr3:52232800-52233600	Flanking Active TSS	Thymus	Thymus
45	chr3:52232800-52233600	Enhancers	Spleen	Spleen
46	chr3:52233000-52233400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:52233000-52233400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:52233000-52233400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:52233000-52233400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:52233000-52233400	Active TSS	Brain Germinal Matrix	brain

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