Variant report

Variant	rs4146376
Chromosome Location	chr2:152893634-152893635
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152893139..152893992-chr2:153483636..153484414,3	MCF-7	breast:
2	chr2:152893478..152894026-chr2:153491895..153492878,4	K562	blood:
3	chr2:152893498..152894006-chr2:153596632..153597403,2	K562	blood:
4	chr2:152893430..152893948-chr2:153031551..153032100,2	MCF-7	breast:
5	chr2:152892630..152894041-chr2:153031385..153032410,8	MCF-7	breast:
6	chr2:152893143..152893829-chr2:153011611..153012127,2	MCF-7	breast:
7	chr2:152888573..152890239-chr2:152893538..152895609,2	MCF-7	breast:
8	chr2:152889201..152891298-chr2:152892335..152894011,2	MCF-7	breast:
9	chr2:152893247..152893922-chr2:152972233..152973059,2	MCF-7	breast:
10	chr2:152893310..152893909-chr2:153011664..153012216,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10190546	0.94[YRI][hapmap]
rs10930888	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930892	0.89[CEU][hapmap];0.87[YRI][hapmap]
rs12471157	0.85[EUR][1000 genomes]
rs12474775	0.82[AMR][1000 genomes]
rs16830598	0.90[CEU][hapmap];0.94[CHB][hapmap]
rs16830616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes]
rs1949521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs2139417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes]
rs2345160	0.81[CHB][hapmap]
rs2881059	0.94[CHB][hapmap]
rs35478891	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3845845	0.90[CEU][hapmap];0.94[CHB][hapmap]
rs4664075	0.89[EUR][1000 genomes]
rs4664076	0.87[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4664513	0.87[CHB][hapmap]
rs4664524	0.81[AMR][1000 genomes]
rs58147624	0.84[AMR][1000 genomes]
rs58248711	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58402146	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58761979	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61156093	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433726	0.82[CHB][hapmap]
rs6433777	0.87[CHB][hapmap]
rs6721518	0.87[CHB][hapmap]
rs6728019	0.88[CHB][hapmap]
rs6755776	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7604835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs7607695	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9917162	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9917211	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9917218	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152882800-152894200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:152888200-152894600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:152889800-152894400	Weak transcription	Fetal Brain Female	brain
4	chr2:152890000-152904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:152890200-152894200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:152891000-152894200	Weak transcription	Fetal Brain Male	brain
7	chr2:152891600-152893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:152891600-152893800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:152891600-152894000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:152891800-152893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:152893400-152893800	Enhancers	Right Ventricle	heart
12	chr2:152893400-152894600	Enhancers	Brain Substantia Nigra	brain
13	chr2:152893400-152895000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:152893400-152895400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:152893400-152895400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:152893400-152898000	Enhancers	Fetal Stomach	stomach
17	chr2:152893600-152893800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr2:152893600-152893800	Enhancers	Liver	Liver
19	chr2:152893600-152893800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr2:152893600-152894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:152893600-152894400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:152893600-152894600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:152893600-152895400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:152893600-152895400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:152893600-152895400	Enhancers	Brain Hippocampus Middle	brain
26	chr2:152893600-152895400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:152893600-152895400	Enhancers	Colon Smooth Muscle	Colon
28	chr2:152893600-152895400	Enhancers	Fetal Kidney	kidney
29	chr2:152893600-152895400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:152893600-152895600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:152893600-152895600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:152893600-152895600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:152893600-152895600	Enhancers	Adipose Nuclei	Adipose
34	chr2:152893600-152895600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:152893600-152896000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:152893600-152896200	Enhancers	Fetal Lung	lung
37	chr2:152893600-152896400	Enhancers	Fetal Muscle Leg	muscle

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