Variant report

Variant	rs6435424
Chromosome Location	chr2:209038420-209038421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209033805..209035560-chr2:209037521..209040634,3	K562	blood:
2	chr2:209033532..209035428-chr2:209036949..209038570,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1023751	1.00[AMR][1000 genomes]
rs10755022	1.00[AMR][1000 genomes]
rs10932258	1.00[AMR][1000 genomes]
rs11674342	1.00[AMR][1000 genomes]
rs11690008	1.00[AMR][1000 genomes]
rs12464567	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12474810	1.00[AMR][1000 genomes]
rs12694099	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1348752	1.00[AMR][1000 genomes]
rs1529978	1.00[AMR][1000 genomes]
rs1992740	1.00[AMR][1000 genomes]
rs2043718	1.00[AMR][1000 genomes]
rs2043719	1.00[AMR][1000 genomes]
rs2118298	1.00[AMR][1000 genomes]
rs2363464	1.00[AMR][1000 genomes]
rs4675756	1.00[AMR][1000 genomes]
rs6435419	0.88[AFR][1000 genomes]
rs6435421	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435422	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435423	1.00[AMR][1000 genomes]
rs6435432	1.00[AMR][1000 genomes]
rs6435438	1.00[AMR][1000 genomes]
rs6706160	1.00[AMR][1000 genomes]
rs6728979	1.00[AMR][1000 genomes]
rs6748431	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6755550	1.00[AMR][1000 genomes]
rs7593482	1.00[AMR][1000 genomes]
rs796269	1.00[AMR][1000 genomes]
rs935366	1.00[AMR][1000 genomes]
rs9808144	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv584298	chr2:209021232-209052303	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv584299	chr2:209021232-209067051	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv875749	chr2:209022909-209062388	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875750	chr2:209022909-209069303	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869592	chr2:209029861-209060862	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv584300	chr2:209033557-209054928	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv2763083	chr2:209033581-209058397	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv584301	chr2:209034715-209054928	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209028600-209040400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:209029800-209040000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:209030600-209040400	Weak transcription	Fetal Brain Female	brain
4	chr2:209031600-209039400	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:209031800-209039800	Weak transcription	Fetal Brain Male	brain
6	chr2:209032800-209040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:209033600-209040000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:209035200-209040400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:209036400-209038600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:209036600-209040200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:209037000-209039800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:209037200-209040000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:209037200-209040800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:209037400-209039800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:209037600-209039000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:209037600-209040000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:209037800-209039000	Weak transcription	K562	blood
18	chr2:209037800-209040000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:209038000-209040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:209038000-209048200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:209038400-209040000	Weak transcription	Monocytes-CD14+_RO01746	blood

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