Variant report

Variant	rs6493009
Chromosome Location	chr15:42006104-42006105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41987539..41989124-chr15:42004942..42006906,2	K562	blood:
2	chr15:42005381..42008216-chr15:42025990..42028220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174197	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10152274	1.00[EUR][1000 genomes]
rs1025227	1.00[EUR][1000 genomes]
rs1030417	1.00[EUR][1000 genomes]
rs1197656	1.00[EUR][1000 genomes]
rs1197676	1.00[EUR][1000 genomes]
rs1197678	1.00[EUR][1000 genomes]
rs1197695	1.00[EUR][1000 genomes]
rs1197696	1.00[EUR][1000 genomes]
rs1197698	1.00[EUR][1000 genomes]
rs1201692	1.00[EUR][1000 genomes]
rs12900408	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1621597	1.00[EUR][1000 genomes]
rs1648808	1.00[EUR][1000 genomes]
rs1648812	1.00[EUR][1000 genomes]
rs1648819	1.00[EUR][1000 genomes]
rs1648820	1.00[EUR][1000 genomes]
rs890497	1.00[EUR][1000 genomes]
rs890499	1.00[EUR][1000 genomes]
rs890500	1.00[EUR][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	nsv1049514	chr15:41958482-42081210	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1048655	chr15:41978391-42049360	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	nsv1036086	chr15:42004962-42091451	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41972400-42065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41984200-42034800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41989000-42041600	Weak transcription	Fetal Brain Male	brain
4	chr15:41989200-42009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:41995000-42007200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:41995400-42023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:41995800-42006400	Strong transcription	Fetal Muscle Leg	muscle
8	chr15:41996000-42007000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:41996200-42034800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:41997000-42006600	Strong transcription	Hela-S3	cervix
11	chr15:41997400-42006200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:41997400-42006400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:41997400-42006600	Strong transcription	Primary B cells from cord blood	blood
14	chr15:41997400-42006600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:41997400-42008400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:41997400-42008800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:41997600-42006200	Strong transcription	Fetal Thymus	thymus
18	chr15:41997600-42007200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:41998000-42008400	Weak transcription	NHLF	lung
20	chr15:41998600-42006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:41998600-42006800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr15:41998800-42006600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:41999000-42006800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:41999000-42008200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:41999200-42006800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr15:41999200-42008200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:41999400-42006200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:41999400-42006200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:41999400-42006400	Strong transcription	Placenta	Placenta
30	chr15:41999400-42006400	Strong transcription	Thymus	Thymus
31	chr15:41999400-42006600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:41999400-42006600	Strong transcription	Primary T cells from cord blood	blood
33	chr15:41999400-42006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:41999400-42006600	Strong transcription	Liver	Liver
35	chr15:41999400-42006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:41999400-42006800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:41999400-42006800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:41999400-42006800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:41999400-42007200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:41999600-42006200	Strong transcription	Fetal Brain Female	brain
41	chr15:41999600-42006600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:41999600-42006600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:41999600-42006600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:41999600-42006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:41999600-42007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:41999800-42006800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:41999800-42018400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:42000000-42006600	Strong transcription	Osteobl	bone
49	chr15:42000000-42006800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:42000200-42006600	Strong transcription	Duodenum Mucosa	Duodenum

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