Variant report

Variant	rs6494993
Chromosome Location	chr15:72507456-72507457
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	chr15:72505538..72509992-chr15:72512503..72516214,6	K562	blood:
2	chr15:72495501..72498204-chr15:72504932..72507675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1457030	0.82[AFR][1000 genomes]
rs2856926	0.93[AFR][1000 genomes]
rs4238451	0.82[AFR][1000 genomes]
rs4777493	0.97[AFR][1000 genomes]
rs6494995	0.95[AFR][1000 genomes]
rs7179691	0.94[AFR][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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:72490600-72518000	Strong transcription	Dnd41	blood
11	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
18	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:72491000-72511600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:72491000-72512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:72491000-72512200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:72491000-72512600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr15:72491000-72512600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:72491000-72513000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr15:72491000-72513400	Strong transcription	Fetal Lung	lung
27	chr15:72491000-72513600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:72491000-72513600	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr15:72491000-72513800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr15:72491000-72513800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:72491000-72514600	Strong transcription	K562	blood
32	chr15:72491200-72512000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:72491200-72512000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:72491200-72512800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:72491200-72513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:72491400-72511600	Strong transcription	Ovary	ovary
37	chr15:72491400-72512400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr15:72491600-72511200	Strong transcription	GM12878-XiMat	blood
39	chr15:72491600-72511800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr15:72491600-72513600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:72491800-72511600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:72491800-72513200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:72492200-72514000	Strong transcription	Placenta	Placenta
44	chr15:72492200-72514200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:72492400-72511800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:72492400-72513800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr15:72494000-72511400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:72494200-72508000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr15:72494200-72511800	Strong transcription	Adipose Nuclei	Adipose
50	chr15:72494400-72513400	Strong transcription	Thymus	Thymus

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