Variant report

Variant	rs17624895
Chromosome Location	chr6:36948035-36948036
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:36947933-36948405	K562	blood:	n/a	n/a
2	POLR2A	chr6:36946683-36950240	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:36947682-36948664	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36937337..36939324-chr6:36946513..36949209,3	MCF-7	breast:
2	chr6:36937337..36939387-chr6:36947202..36951298,3	MCF-7	breast:
3	chr6:36925903..36928788-chr6:36946034..36948612,2	MCF-7	breast:
4	chr6:36947258..36950041-chr6:36986048..36987573,2	MCF-7	breast:
5	chr6:36859467..36861214-chr6:36946657..36948783,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTCH1	TF binding region
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12191672	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12527905	1.00[JPT][hapmap]
rs17624546	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778022	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778024	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3778026	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3798477	1.00[CHB][hapmap]
rs3798478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585544	0.81[EUR][1000 genomes]
rs726819	1.00[CHB][hapmap]
rs734905	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs753634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs753635	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs7755143	0.81[EUR][1000 genomes]
rs9357232	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs9380628	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv988069	chr6:36942299-36951067	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr6:36931800-36948600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36932400-36951800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:36934000-36949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:36934000-36951600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:36934200-36949200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:36934200-36950400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:36934400-36949200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:36934600-36949200	Strong transcription	Placenta	Placenta
9	chr6:36934800-36949600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:36935000-36948400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:36935000-36949800	Genic enhancers	Left Ventricle	heart
12	chr6:36935000-36950200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:36935200-36948200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:36935200-36948600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:36935400-36948400	Strong transcription	GM12878-XiMat	blood
16	chr6:36936200-36949000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:36938600-36948400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:36939000-36951200	Strong transcription	HSMM	muscle
19	chr6:36939400-36949600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:36939600-36948800	Strong transcription	NHEK	skin
21	chr6:36939600-36950600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:36940800-36948600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:36941200-36950600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:36942800-36948800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:36943600-36948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:36944000-36949400	Genic enhancers	Right Ventricle	heart
27	chr6:36945000-36948600	Strong transcription	K562	blood
28	chr6:36945000-36949200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:36945000-36951200	Enhancers	Fetal Heart	heart
30	chr6:36945200-36948600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:36945400-36951400	Weak transcription	Fetal Kidney	kidney
32	chr6:36945600-36948600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:36945600-36949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:36945600-36949800	Genic enhancers	Stomach Smooth Muscle	stomach
35	chr6:36946200-36949000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:36946200-36951000	Weak transcription	Small Intestine	intestine
37	chr6:36946200-36952000	Weak transcription	A549	lung
38	chr6:36946400-36948600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:36946400-36948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:36946400-36948600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:36946400-36948600	Weak transcription	Esophagus	oesophagus
42	chr6:36946400-36948600	Weak transcription	Gastric	stomach
43	chr6:36946400-36949400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:36946400-36949600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr6:36946400-36949800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:36946400-36950400	Weak transcription	Ovary	ovary
47	chr6:36946400-36951200	Weak transcription	Hela-S3	cervix
48	chr6:36946400-36951600	Weak transcription	HSMMtube	muscle
49	chr6:36946400-36951800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:36946600-36948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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