Variant report

Variant	rs13385879
Chromosome Location	chr2:168190013-168190014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10166605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191894	0.83[AMR][1000 genomes]
rs10200054	0.89[AFR][1000 genomes]
rs12613845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385369	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13395423	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13416692	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432607	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1523879	0.86[AFR][1000 genomes]
rs2291111	1.00[CEU][hapmap]
rs3749002	1.00[YRI][hapmap]
rs3749003	1.00[CEU][hapmap]
rs57270001	0.83[AMR][1000 genomes]
rs58721716	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58989564	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59899923	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61733879	0.83[AMR][1000 genomes]
rs73012054	0.83[AMR][1000 genomes]
rs73012057	0.83[AMR][1000 genomes]
rs73013905	0.83[AMR][1000 genomes]
rs73015836	0.83[AMR][1000 genomes]
rs73015837	0.83[AMR][1000 genomes]
rs73015843	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015845	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73015867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015869	0.96[AFR][1000 genomes]
rs73015872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73017743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73017746	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73017753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73017755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73029722	0.83[AMR][1000 genomes]
rs73029735	0.83[AMR][1000 genomes]
rs73029741	0.83[AMR][1000 genomes]
rs73029744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168187000-168190400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:168187400-168191200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:168187600-168190400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:168187600-168194400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:168187800-168190200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:168187800-168190400	Enhancers	Colonic Mucosa	Colon
7	chr2:168187800-168190800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:168187800-168192800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:168188000-168190400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:168188200-168190400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:168188200-168191000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:168188200-168191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:168188600-168191200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:168188600-168192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:168188800-168190400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:168189000-168194800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:168189200-168190200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:168189200-168190800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:168189200-168192000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:168189200-168192400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:168189200-168192600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:168189200-168194000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:168189200-168194400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:168189200-168194600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:168189800-168190200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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