Variant report

Variant	rs73750967
Chromosome Location	chr6:75988298-75988299
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:75985063..75990386-chr6:75992469..75996781,11	MCF-7	breast:
2	chr6:75988245..75991323-chr6:76311597..76315056,3	MCF-7	breast:
3	chr6:75981707..75983207-chr6:75986780..75988539,2	K562	blood:
4	chr6:75985223..75988429-chr6:75989694..75991807,3	MCF-7	breast:
5	chr6:75981707..75983923-chr6:75986673..75988539,2	K562	blood:
6	chr6:75975053..75977657-chr6:75987752..75989957,2	K562	blood:
7	chr6:75983517..75986641-chr6:75988092..75990242,3	MCF-7	breast:
8	chr6:75967149..75971293-chr6:75986356..75989401,5	K562	blood:
9	chr6:75987095..75989976-chr6:75990032..75992457,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225793	Chromatin interaction
ENSG00000112697	Chromatin interaction
ENSG00000112701	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55808482	1.00[AFR][1000 genomes]
rs56115959	1.00[AFR][1000 genomes]
rs57828997	0.87[AFR][1000 genomes]
rs58046294	1.00[AFR][1000 genomes]
rs59493800	0.87[AFR][1000 genomes]
rs60105031	0.87[AFR][1000 genomes]
rs60548078	0.87[AFR][1000 genomes]
rs60997647	0.87[AFR][1000 genomes]
rs73747438	0.87[AFR][1000 genomes]
rs73747445	0.87[AFR][1000 genomes]
rs73747447	0.87[AFR][1000 genomes]
rs73747449	0.87[AFR][1000 genomes]
rs73747450	0.87[AFR][1000 genomes]
rs73747452	0.87[AFR][1000 genomes]
rs73747454	1.00[AFR][1000 genomes]
rs73747455	1.00[AFR][1000 genomes]
rs73750962	1.00[AFR][1000 genomes]
rs73750964	1.00[AFR][1000 genomes]
rs7773618	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv603764	chr6:75963751-76025603	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75969600-75992200	Weak transcription	Colonic Mucosa	Colon
2	chr6:75970000-75992400	Weak transcription	Brain Substantia Nigra	brain
3	chr6:75974200-75993000	Weak transcription	Placenta	Placenta
4	chr6:75974800-75989800	Weak transcription	Fetal Brain Female	brain
5	chr6:75975000-75992400	Weak transcription	Fetal Stomach	stomach
6	chr6:75978200-75989400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:75978200-75992400	Weak transcription	Fetal Kidney	kidney
8	chr6:75978400-75990000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:75978600-75993600	Weak transcription	Esophagus	oesophagus
10	chr6:75982600-75991800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:75982600-75992400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:75982600-75993600	Weak transcription	Spleen	Spleen
13	chr6:75982800-75989200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:75982800-75990200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:75982800-75991800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:75983000-75989200	Weak transcription	HSMMtube	muscle
17	chr6:75983000-75991000	Weak transcription	Primary B cells from cord blood	blood
18	chr6:75983000-75991800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:75983000-75991800	Weak transcription	Fetal Intestine Large	intestine
20	chr6:75983000-75992400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:75983000-75992400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:75983000-75992400	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:75983000-75992400	Weak transcription	Thymus	Thymus
24	chr6:75983000-75992600	Weak transcription	Fetal Thymus	thymus
25	chr6:75983000-75993200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:75983000-75993400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:75983200-75991800	Weak transcription	Aorta	Aorta
28	chr6:75983400-75990000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:75984000-75991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:75984200-75989200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:75984400-75989200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:75984400-75991600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:75984600-75989400	Enhancers	HUVEC	blood vessel
34	chr6:75984800-75989400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:75985200-75989800	Weak transcription	Hela-S3	cervix
36	chr6:75985200-75990800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:75985400-75990600	Enhancers	NH-A	brain
38	chr6:75985600-75988400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:75985600-75988600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:75985600-75989800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:75986000-75989200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:75986200-75988400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:75986200-75989200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:75986200-75989200	Weak transcription	HepG2	liver
45	chr6:75986200-75990200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:75986200-75991400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:75986400-75989600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:75986400-75991400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:75986400-75992400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:75986600-75988400	Weak transcription	Primary T cells from cord blood	blood

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