Variant report

Variant	rs72960035
Chromosome Location	chr6:74180845-74180846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:74180716-74180967	GM12878	blood:	n/a	n/a
2	ZNF384	chr6:74180650-74181131	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74000304-74012200..6:74160392-74184826	K562	blood:

Variant related genes	Relation type
MTO1	TF binding region
ENSG00000234882	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11961187	1.00[AFR][1000 genomes]
rs11965436	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11968395	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11969010	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806980	0.85[EUR][1000 genomes]
rs4032697	1.00[AFR][1000 genomes]
rs72951364	0.85[EUR][1000 genomes]
rs72960023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72960044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960049	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72960065	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72961942	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr6:74172200-74189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:74172200-74189600	Weak transcription	Stomach Mucosa	stomach
3	chr6:74172200-74197200	Weak transcription	Fetal Heart	heart
4	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:74172400-74183000	Weak transcription	Aorta	Aorta
6	chr6:74172400-74183400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:74172800-74181400	Strong transcription	Fetal Stomach	stomach
8	chr6:74172800-74183000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:74172800-74183000	Weak transcription	A549	lung
10	chr6:74172800-74183200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:74173000-74183000	Weak transcription	Psoas Muscle	Psoas
12	chr6:74173000-74183200	Weak transcription	Colonic Mucosa	Colon
13	chr6:74173200-74182800	Weak transcription	Right Ventricle	heart
14	chr6:74173400-74181400	Strong transcription	Fetal Intestine Small	intestine
15	chr6:74173400-74199000	Strong transcription	Fetal Thymus	thymus
16	chr6:74173600-74198800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:74173800-74181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:74173800-74181800	Strong transcription	Fetal Muscle Leg	muscle
19	chr6:74173800-74182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:74173800-74198800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:74173800-74206200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:74174000-74187600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:74174000-74193600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:74174200-74182600	Weak transcription	Small Intestine	intestine
25	chr6:74175200-74198800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:74175200-74199200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:74175400-74199000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:74175600-74181400	Strong transcription	Lung	lung
29	chr6:74175600-74181600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:74175600-74188400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:74175600-74198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:74175600-74199000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:74175600-74199000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:74175800-74181400	Strong transcription	Thymus	Thymus
35	chr6:74175800-74184400	Strong transcription	Osteobl	bone
36	chr6:74175800-74188400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:74175800-74196800	Strong transcription	Liver	Liver
38	chr6:74175800-74197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:74175800-74198000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:74175800-74198800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:74175800-74198800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:74175800-74198800	Strong transcription	Placenta	Placenta
43	chr6:74175800-74199000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr6:74175800-74199200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:74175800-74201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:74176000-74181400	Strong transcription	Left Ventricle	heart
47	chr6:74176000-74181600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:74176000-74181600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:74176000-74181800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:74176000-74181800	Strong transcription	Brain Cingulate Gyrus	brain

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