Variant report

Variant	rs55744865
Chromosome Location	chr7:6089553-6089554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6085178..6086878-chr7:6088659..6090209,2	K562	blood:
2	chr7:6087952..6090594-chr7:6142874..6144661,2	MCF-7	breast:
3	chr7:6087739..6090277-chr7:6144238..6146769,2	K562	blood:
4	chr7:6088385..6094531-chr7:6095693..6100506,11	MCF-7	breast:
5	chr7:6074673..6076443-chr7:6088035..6089641,2	K562	blood:
6	chr7:6084536..6086826-chr7:6088354..6091112,2	K562	blood:

Variant related genes	Relation type
ENSG00000086232	Chromatin interaction
ENSG00000252929	Chromatin interaction
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58784675	1.00[AMR][1000 genomes]
rs59137079	1.00[AMR][1000 genomes]
rs59537848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61340688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61735883	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61751884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71541538	1.00[AMR][1000 genomes]
rs7794248	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv605998	chr7:6035065-6102034	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv1018388	chr7:6038713-6131169	Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers 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 miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	esv1851770	chr7:6084310-6089831	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv3405881	chr7:6087760-6122016	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr7:6049400-6098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6050000-6097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6050400-6095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:6050400-6095600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6050600-6091000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:6050800-6091000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:6050800-6095200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:6051000-6095200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:6051800-6089600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:6052600-6094600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:6053000-6095000	Strong transcription	Fetal Intestine Small	intestine
12	chr7:6054400-6095200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:6054600-6090200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:6056000-6089600	Strong transcription	Liver	Liver
15	chr7:6056400-6095200	Strong transcription	Dnd41	blood
16	chr7:6056600-6095200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6056800-6090000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:6056800-6090600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:6056800-6094800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:6066400-6090000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:6066600-6094600	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:6066800-6091200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:6066800-6094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:6066800-6095200	Strong transcription	Fetal Thymus	thymus
25	chr7:6067000-6089600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:6067000-6089800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:6067000-6094600	Strong transcription	Placenta	Placenta
28	chr7:6067200-6089600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:6067200-6090400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:6067400-6089600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:6067800-6095200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:6068000-6094400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:6071000-6094600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:6071200-6090600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:6071600-6097200	Weak transcription	Right Atrium	heart
36	chr7:6072600-6089800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:6072600-6095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:6073000-6090000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr7:6073000-6090800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:6074400-6089800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:6076000-6097800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:6079800-6090200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:6080000-6092800	Strong transcription	Primary T cells from cord blood	blood
44	chr7:6083000-6090600	Weak transcription	Stomach Mucosa	stomach
45	chr7:6083200-6097400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:6083600-6097200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:6084400-6093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:6084400-6096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:6084400-6098200	Weak transcription	Esophagus	oesophagus
50	chr7:6084600-6093800	Weak transcription	NHLF	lung

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