Variant report

Variant	rs751908
Chromosome Location	chr2:233790911-233790912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233790048..233791601-chr2:233794420..233796079,2	K562	blood:
2	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
3	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
4	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10207739	0.86[CHB][hapmap]
rs11684636	0.86[CHB][hapmap]
rs11904619	0.86[CHB][hapmap]
rs12052869	0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs13035517	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13383733	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap]
rs13387762	0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs13390935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391061	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13401578	0.86[CHB][hapmap]
rs13423949	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13424896	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs13425918	1.00[ASW][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap]
rs1446307	0.84[CHB][hapmap]
rs2289915	0.86[CHB][hapmap]
rs2292724	1.00[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap]
rs2292725	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs2293782	0.86[CHB][hapmap]
rs34063802	0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs55649298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67267176	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288675	0.86[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs9288676	0.81[CEU][hapmap];0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv518226	chr2:233790447-233793517	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233781800-233791800	Weak transcription	Pancreas	Pancrea
2	chr2:233784000-233791400	Strong transcription	Liver	Liver
3	chr2:233785000-233792000	Weak transcription	Gastric	stomach
4	chr2:233789200-233791200	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr2:233789200-233791400	Enhancers	Esophagus	oesophagus
6	chr2:233789200-233791600	Strong transcription	HepG2	liver
7	chr2:233789400-233791600	Enhancers	HSMMtube	muscle
8	chr2:233789800-233791400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr2:233789800-233791600	Active TSS	Brain Anterior Caudate	brain
10	chr2:233789800-233791600	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr2:233789800-233791800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr2:233789800-233791800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:233789800-233792000	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr2:233789800-233792400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:233789800-233793200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:233790000-233791600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:233790000-233791600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:233790000-233792000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr2:233790000-233792200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr2:233790200-233791400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr2:233790200-233791400	Active TSS	Brain Angular Gyrus	brain
22	chr2:233790200-233791600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr2:233790200-233791800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr2:233790200-233791800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr2:233790200-233792000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:233790400-233791200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr2:233790400-233791400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:233790400-233792200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr2:233790400-233792400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr2:233790600-233791000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:233790600-233791000	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr2:233790600-233791400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr2:233790600-233791800	Bivalent Enhancer	Right Ventricle	heart
34	chr2:233790600-233792400	Bivalent Enhancer	Placenta	Placenta
35	chr2:233790800-233791200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr2:233790800-233791400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr2:233790800-233791400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:233790800-233791600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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