Variant report

Variant	rs1040724
Chromosome Location	chr6:161575543-161575544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161552790..161554841-chr6:161572944..161575587,2	K562	blood:
2	chr6:161574755..161576557-chr6:161587307..161589686,2	K562	blood:
3	chr6:161566821..161570627-chr6:161571928..161576334,7	K562	blood:
4	chr6:161573780..161576255-chr6:161588186..161590338,2	K562	blood:
5	chr6:161574079..161576622-chr6:161584253..161586055,2	K562	blood:
6	chr6:161570952..161573247-chr6:161574439..161576942,2	K562	blood:
7	chr6:161410816..161413684-chr6:161575440..161579081,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000026652	Chromatin interaction
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10499315	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10499316	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11961712	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13191415	1.00[CEU][hapmap]
rs13192827	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13193634	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13194878	0.84[EUR][1000 genomes]
rs13215186	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13219494	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13220357	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs16892284	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16892303	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17537799	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17626731	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs34620502	0.84[EUR][1000 genomes]
rs35180185	0.83[EUR][1000 genomes]
rs35267977	0.84[EUR][1000 genomes]
rs35505620	0.83[EUR][1000 genomes]
rs4314476	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71565796	0.83[EUR][1000 genomes]
rs71565797	0.84[EUR][1000 genomes]
rs7744842	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7747618	0.82[EUR][1000 genomes]
rs7751159	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7756321	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7758121	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7767737	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7770491	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7771961	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9458149	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
3	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
4	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
6	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
7	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
8	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
13	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
14	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:161557600-161581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:161557800-161584200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:161558200-161577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:161558200-161582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:161558400-161581400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:161559400-161587600	Weak transcription	Fetal Intestine Large	intestine
22	chr6:161560000-161583200	Weak transcription	HMEC	breast
23	chr6:161560200-161583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:161560400-161581400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:161560400-161584600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:161560600-161584400	Weak transcription	NHLF	lung
27	chr6:161560800-161582400	Weak transcription	HSMMtube	muscle
28	chr6:161563400-161588200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:161564800-161577000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:161566000-161577600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:161566200-161577400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:161566600-161577400	Strong transcription	Brain Germinal Matrix	brain
33	chr6:161567000-161577600	Strong transcription	Fetal Muscle Leg	muscle
34	chr6:161567600-161578000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:161567600-161585400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:161568000-161581200	Weak transcription	Osteobl	bone
37	chr6:161568000-161581400	Weak transcription	NH-A	brain
38	chr6:161569200-161584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:161569600-161581400	Weak transcription	NHDF-Ad	bronchial
40	chr6:161569800-161583000	Weak transcription	HSMM	muscle
41	chr6:161570200-161575600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:161570200-161579000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:161570200-161583200	Weak transcription	Left Ventricle	heart
44	chr6:161571000-161577200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:161571000-161578600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:161571200-161576200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr6:161571200-161580800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:161571200-161587600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:161571600-161577400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:161571600-161587400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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