Variant report

Variant	rs2544912
Chromosome Location	chr5:100162662-100162663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100157247..100161325-chr5:100161571..100164994,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1423381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs17160705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs17160732	1.00[CEU][hapmap]
rs17160844	1.00[CEU][hapmap]
rs2544911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs2544914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs2544915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2544919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2548272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2548277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2561524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2561525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2561526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2725123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3776165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs3776166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs3776172	1.00[CHB][hapmap]
rs3776173	1.00[CEU][hapmap]
rs6595534	1.00[CEU][hapmap]
rs980901	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100143400-100163200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:100145800-100164000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:100147600-100163200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
5	chr5:100147800-100163000	Weak transcription	Primary T cells from cord blood	blood
6	chr5:100147800-100163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:100147800-100163800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:100147800-100163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:100147800-100179000	Weak transcription	Fetal Thymus	thymus
10	chr5:100148200-100163200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:100148600-100173200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:100150400-100163400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:100153800-100163000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:100153800-100164000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:100156000-100163600	Weak transcription	Primary B cells from cord blood	blood
16	chr5:100157400-100163400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:100159000-100163200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:100159200-100163000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:100159200-100163200	Weak transcription	Placenta	Placenta
20	chr5:100159400-100163000	Weak transcription	A549	lung
21	chr5:100159800-100164200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:100159800-100170800	Strong transcription	Dnd41	blood
23	chr5:100160200-100163200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:100160200-100163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:100160800-100163200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:100161000-100165000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:100161200-100164400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:100161200-100165000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:100161200-100165000	Enhancers	HSMM	muscle
30	chr5:100161400-100164400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:100161600-100163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:100161600-100165000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:100161800-100165200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:100162000-100163000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:100162000-100163200	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:100162000-100165200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:100162200-100163400	Weak transcription	Small Intestine	intestine
38	chr5:100162200-100163800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:100162200-100165000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:100162400-100162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:100162400-100162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:100162400-100162800	Enhancers	GM12878-XiMat	blood
43	chr5:100162400-100163000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:100162400-100163200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:100162600-100164800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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