Variant report

Variant	rs9446243
Chromosome Location	chr6:71124559-71124560
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	CTCF	chr6:71124480-71124630	AG09319	gingival:	n/a	n/a
2	CTCF	chr6:71124540-71124690	HMF	breast:	n/a	n/a
3	CTCF	chr6:71124480-71124630	HPAF	blood vessel:	n/a	n/a
4	ZNF143	chr6:71124267-71124630	GM12878	blood:	n/a	n/a
5	CTCF	chr6:71124543-71124621	GM10248	blood:	n/a	n/a
6	CTCF	chr6:71124431-71124776	GM12878	blood:	n/a	n/a
7	IRF1	chr6:71124403-71124611	K562	blood:	n/a	n/a
8	MYC	chr6:71124465-71124559	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr6:71124531-71124900	K562	blood:	n/a	chr6:71124711-71124724 chr6:71124711-71124724 chr6:71124713-71124724 chr6:71124711-71124724 chr6:71124713-71124724
10	CTCF	chr6:71124520-71124670	HCFaa	heart:	n/a	n/a
11	TBL1XR1	chr6:71124163-71124596	GM12878	blood:	n/a	n/a

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: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10080714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10440813	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10485117	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332812	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12332923	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs16869217	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869242	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869261	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs16869301	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs2207424	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs2223997	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs28555262	0.91[AFR][1000 genomes]
rs28885692	0.91[AFR][1000 genomes]
rs3846749	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747454	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294867	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294869	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294870	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9294873	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9294875	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9446244	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs9446247	0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9446251	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9446253	0.93[AFR][1000 genomes]
rs9446255	0.88[AFR][1000 genomes]
rs9446256	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446257	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9446259	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446260	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446261	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446262	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446263	0.88[AFR][1000 genomes]
rs9446264	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9446265	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9446266	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs9455091	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455096	1.00[YRI][hapmap]
rs9455102	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455103	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9455107	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455109	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455110	0.88[AFR][1000 genomes]
rs9455112	0.88[AFR][1000 genomes]
rs9455115	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455116	0.88[AFR][1000 genomes]
rs9455117	0.84[AFR][1000 genomes]
rs9455118	0.95[AFR][1000 genomes]
rs9455119	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455120	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455122	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455123	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455124	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455126	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455127	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455128	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs9455131	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9455134	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs9455135	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455136	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455137	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455141	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455142	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455143	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455145	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455146	0.84[AFR][1000 genomes]
rs9455147	0.91[AFR][1000 genomes]
rs9455148	0.91[AFR][1000 genomes]
rs9455152	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455154	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455155	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9455157	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9455159	0.81[AFR][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:119 , 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	chr6:71121800-71124600	Active TSS	Fetal Kidney	kidney
3	chr6:71121800-71124800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:71122000-71124600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:71122000-71124600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:71122000-71124600	Active TSS	Colonic Mucosa	Colon
7	chr6:71122000-71124600	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:71122000-71124800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:71122000-71124800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:71122000-71125000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:71122000-71125200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:71122000-71126200	Active TSS	GM12878-XiMat	blood
13	chr6:71122200-71124600	Active TSS	Fetal Stomach	stomach
14	chr6:71122200-71124600	Active TSS	Ovary	ovary
15	chr6:71122200-71124600	Active TSS	Right Atrium	heart
16	chr6:71122200-71124600	Active TSS	Right Ventricle	heart
17	chr6:71122200-71124600	Active TSS	Thymus	Thymus
18	chr6:71122200-71124800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:71122200-71124800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:71122200-71124800	Active TSS	A549	lung
21	chr6:71122200-71124800	Active TSS	K562	blood
22	chr6:71122200-71125200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:71122200-71125200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr6:71122200-71125200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr6:71122200-71125400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:71122400-71124600	Active TSS	Brain Hippocampus Middle	brain
27	chr6:71122400-71124600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:71122400-71124600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:71122400-71124800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:71122400-71125000	Active TSS	Brain Angular Gyrus	brain
31	chr6:71122400-71125000	Active TSS	Fetal Brain Female	brain
32	chr6:71122400-71125000	Active TSS	Fetal Thymus	thymus
33	chr6:71122400-71125400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:71122400-71126200	Active TSS	Fetal Intestine Small	intestine
35	chr6:71122600-71125000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:71122600-71125000	Active TSS	NHEK	skin
37	chr6:71122600-71126000	Active TSS	Fetal Intestine Large	intestine
38	chr6:71122800-71124800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:71122800-71125000	Active TSS	HMEC	breast
40	chr6:71122800-71125200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:71123600-71125200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:71123800-71124600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:71123800-71124600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:71123800-71124600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:71123800-71124600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:71123800-71124600	Flanking Active TSS	Dnd41	blood
47	chr6:71123800-71125000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:71123800-71125200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr6:71124000-71124600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr6:71124000-71157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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