Variant report

Variant	rs73474939
Chromosome Location	chr6:71124341-71124342
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	MYC	chr6:71124244-71124444	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF384	chr6:71124338-71124381	GM12878	blood:	n/a	n/a
3	ZNF143	chr6:71124267-71124630	GM12878	blood:	n/a	n/a
4	REST	chr6:71122361-71124382	H1-neurons	neurons:	n/a	chr6:71123430-71123443
5	MAZ	chr6:71122430-71124454	K562	blood:	n/a	chr6:71123792-71123808 chr6:71123800-71123811 chr6:71123796-71123815 chr6:71123092-71123102
6	RCOR1	chr6:71123652-71124520	K562	blood:	n/a	n/a
7	TBL1XR1	chr6:71124163-71124596	GM12878	blood:	n/a	n/a
8	MXI1	chr6:71121995-71124509	SK-N-SH	brain:	n/a	chr6:71123802-71123811
9	CHD1	chr6:71122691-71124553	GM12878	blood:	n/a	chr6:71123094-71123104 chr6:71122913-71122920 chr6:71124217-71124227

No.	Distal block	Cell Line	Cell type
1	chr6:71121490..71124764-chr6:71274758..71276919,3	K562	blood:
2	chr6:71123174..71124742-chr6:71275552..71278057,2	K562	blood:
3	chr6:71124304..71127222-chr6:71142586..71144207,2	K562	blood:

Variant related genes	Relation type
ENSG00000224349	TF binding region
ENSG00000154079	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs4084006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211713	1.00[AFR][1000 genomes]
rs57247959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57627989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58125338	1.00[AMR][1000 genomes]
rs58605827	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60954115	1.00[AFR][1000 genomes]
rs6906657	1.00[AMR][1000 genomes]
rs73472767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472779	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73472786	1.00[AMR][1000 genomes]
rs73472788	1.00[AMR][1000 genomes]
rs73472800	1.00[AMR][1000 genomes]
rs73474931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73474964	1.00[AMR][1000 genomes]
rs73474983	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73476888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73478818	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482575	0.82[AFR][1000 genomes]
rs73485119	0.82[AFR][1000 genomes]
rs73485122	0.82[AFR][1000 genomes]
rs73485130	0.82[AFR][1000 genomes]
rs73485141	1.00[AFR][1000 genomes]
rs73485161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752725	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1026229	chr6:71016272-71183503	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1032876	chr6:71048428-71145166	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
9	nsv1027161	chr6:71106657-71145166	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr6:71121400-71125200	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:71121800-71124400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:71121800-71124600	Active TSS	Fetal Kidney	kidney
4	chr6:71121800-71124800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:71122000-71124400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:71122000-71124400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:71122000-71124400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:71122000-71124400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:71122000-71124600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:71122000-71124600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:71122000-71124600	Active TSS	Colonic Mucosa	Colon
12	chr6:71122000-71124600	Active TSS	Stomach Smooth Muscle	stomach
13	chr6:71122000-71124800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:71122000-71124800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:71122000-71125000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:71122000-71125200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:71122000-71126200	Active TSS	GM12878-XiMat	blood
18	chr6:71122200-71124400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:71122200-71124400	Active TSS	Fetal Muscle Trunk	muscle
20	chr6:71122200-71124600	Active TSS	Fetal Stomach	stomach
21	chr6:71122200-71124600	Active TSS	Ovary	ovary
22	chr6:71122200-71124600	Active TSS	Right Atrium	heart
23	chr6:71122200-71124600	Active TSS	Right Ventricle	heart
24	chr6:71122200-71124600	Active TSS	Thymus	Thymus
25	chr6:71122200-71124800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:71122200-71124800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:71122200-71124800	Active TSS	A549	lung
28	chr6:71122200-71124800	Active TSS	K562	blood
29	chr6:71122200-71125200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:71122200-71125200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr6:71122200-71125200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:71122200-71125400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:71122400-71124400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:71122400-71124400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:71122400-71124400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:71122400-71124400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:71122400-71124400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:71122400-71124400	Active TSS	Aorta	Aorta
39	chr6:71122400-71124400	Active TSS	Brain Substantia Nigra	brain
40	chr6:71122400-71124400	Active TSS	Esophagus	oesophagus
41	chr6:71122400-71124400	Active TSS	Left Ventricle	heart
42	chr6:71122400-71124400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr6:71122400-71124400	Active TSS	Psoas Muscle	Psoas
44	chr6:71122400-71124400	Active TSS	Stomach Mucosa	stomach
45	chr6:71122400-71124600	Active TSS	Brain Hippocampus Middle	brain
46	chr6:71122400-71124600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr6:71122400-71124600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:71122400-71124800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr6:71122400-71125000	Active TSS	Brain Angular Gyrus	brain
50	chr6:71122400-71125000	Active TSS	Fetal Brain Female	brain

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