Variant report

Variant	rs2612700
Chromosome Location	chr2:111632332-111632333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
2	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
3	chr2:111630021..111632661-chr2:111644852..111646520,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10169852	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs10179923	0.91[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs10180020	0.91[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs10180446	0.87[CEU][hapmap]
rs10864930	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12711785	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs13019266	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs1533295	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs1533298	0.90[CEU][hapmap]
rs1533300	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs1554006	0.81[CEU][hapmap]
rs2341873	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2612698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848317	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849134	0.90[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs4849135	0.90[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs4849155	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7576541	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs7588925	0.91[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs9917154	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs997523	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874840	chr2:111605245-111695479	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv874841	chr2:111616304-111685789	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 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	chr2:111617600-111632600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111624200-111634600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:111626800-111635600	Enhancers	Fetal Thymus	thymus
4	chr2:111627400-111632600	Weak transcription	NH-A	brain
5	chr2:111628800-111633600	Enhancers	GM12878-XiMat	blood
6	chr2:111629400-111633200	Enhancers	Primary T cells from cord blood	blood
7	chr2:111629400-111633800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:111629600-111634600	Weak transcription	Spleen	Spleen
9	chr2:111630000-111632800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:111630400-111633400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:111630600-111632400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:111630800-111633400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:111630800-111637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:111631000-111632400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr2:111631200-111634800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:111631200-111635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:111631400-111632400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:111631400-111633200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:111631400-111634800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:111631600-111633000	Enhancers	Fetal Heart	heart
21	chr2:111631600-111633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:111631800-111632800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:111631800-111633200	Enhancers	Lung	lung
24	chr2:111631800-111634200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:111631800-111634800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:111631800-111635600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:111632000-111632400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr2:111632000-111632800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:111632000-111633000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:111632000-111633800	Enhancers	Primary B cells from cord blood	blood
31	chr2:111632000-111635600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:111632000-111635600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:111632000-111637400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:111632000-111662000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:111632200-111633600	Weak transcription	Dnd41	blood
36	chr2:111632200-111634000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:111632200-111634400	Weak transcription	Thymus	Thymus

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