Variant report

Variant	rs7744086
Chromosome Location	chr6:28973712-28973713
allele	C/T
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	GABPA	chr6:28972841-28973714	HL-60	blood:	n/a	n/a
2	HCFC1	chr6:28973089-28973937	Hela-S3	cervix:	n/a	n/a
3	ELF1	chr6:28973020-28973715	MCF-7	breast:	n/a	n/a
4	NR2F2	chr6:28972621-28973792	K562	blood:	n/a	n/a
5	TBL1XR1	chr6:28972989-28973737	K562	blood:	n/a	n/a
6	POLR2A	chr6:28973068-28973716	K562	blood:	n/a	n/a
7	GABPA	chr6:28972758-28973916	MCF-7	breast:	n/a	n/a
8	PML	chr6:28972843-28973743	K562	blood:	n/a	chr6:28973586-28973594
9	MAX	chr6:28972814-28973715	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:28973013-28973753	K562	blood:	n/a	n/a
11	POLR2A	chr6:28973165-28973716	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:28973089-28973716	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr6:28973144-28973726	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F6	chr6:28972607-28973740	H1-hESC	embryonic stem cell:	n/a	chr6:28973149-28973156 chr6:28973148-28973157 chr6:28973149-28973156 chr6:28973149-28973156 chr6:28973146-28973157 chr6:28973145-28973157
15	GABPA	chr6:28972923-28973733	MCF-7	breast:	n/a	n/a
16	PML	chr6:28972775-28973752	K562	blood:	n/a	chr6:28973586-28973594
17	TEAD4	chr6:28972751-28973747	K562	blood:	n/a	n/a
18	POLR2A	chr6:28972956-28973732	K562	blood:	n/a	n/a
19	POLR2A	chr6:28972976-28973733	MCF10A-Er-Src	breast:	n/a	n/a
20	IRF1	chr6:28973114-28973745	K562	blood:	n/a	chr6:28973396-28973405
21	BCLAF1	chr6:28972889-28973765	K562	blood:	n/a	n/a
22	POLR2A	chr6:28972903-28973721	K562	blood:	n/a	n/a
23	SIN3AK20	chr6:28973006-28973725	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:28972659-28973715	K562	blood:	n/a	n/a
25	MYC	chr6:28972930-28973724	K562	blood:	n/a	n/a
26	POLR2A	chr6:28973041-28973731	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28952766..28954746-chr6:28971481..28973784,3	MCF-7	breast:
2	chr6:28827198..28830005-chr6:28973058..28974944,2	K562	blood:
3	chr6:28830568..28832864-chr6:28971652..28974126,2	K562	blood:
4	chr6:28890160..28893119-chr6:28970726..28976038,6	K562	blood:
5	chr6:28830168..28831847-chr6:28972589..28974401,2	K562	blood:
6	chr6:28948241..28954799-chr6:28970209..28976187,12	MCF-7	breast:
7	chr6:28864176..28867304-chr6:28972657..28975728,3	K562	blood:
8	chr6:28762168..28764957-chr6:28971752..28974125,2	K562	blood:
9	chr6:28890449..28893259-chr6:28971754..28975345,6	K562	blood:

Variant related genes	Relation type
ZNF311	TF binding region
ENSG00000224157	Chromatin interaction
ENSG00000227214	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000265764	Chromatin interaction
ENSG00000244349	Chromatin interaction
ENSG00000213916	Chromatin interaction
ENSG00000204713	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2394513	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28895350	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41316629	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41317419	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs41317427	0.82[AFR][1000 genomes]
rs6916923	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754810	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9257440	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9257442	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257444	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257446	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257448	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257452	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257453	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257454	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257460	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9257463	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9257469	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
3	nsv1023540	chr6:28922691-29326018	Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538169	chr6:28922691-29326018	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv869541	chr6:28922692-29326017	Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv916439	chr6:28922697-29326087	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv462668	chr6:28922719-29342775	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv601213	chr6:28922719-29342775	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv1015796	chr6:28923980-29342825	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv462669	chr6:28936556-29337500	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv601214	chr6:28936556-29337500	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv601215	chr6:28946920-29348297	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1023028	chr6:28956136-29343575	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv538170	chr6:28956136-29343575	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	nsv1018937	chr6:28956136-29366175	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv1032468	chr6:28968930-29155749	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28972000-28973800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28972400-28973800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:28972600-28973800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr6:28972600-28973800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:28972800-28973800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:28972800-28973800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr6:28972800-28973800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:28972800-28973800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
9	chr6:28972800-28973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:28972800-28973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:28972800-28973800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:28972800-28973800	Active TSS	Brain Hippocampus Middle	brain
13	chr6:28972800-28973800	Active TSS	Duodenum Mucosa	Duodenum
14	chr6:28972800-28973800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:28972800-28973800	Active TSS	Fetal Intestine Large	intestine
16	chr6:28972800-28973800	Active TSS	Fetal Kidney	kidney
17	chr6:28972800-28973800	Active TSS	Fetal Lung	lung
18	chr6:28972800-28974000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:28973000-28973800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:28973000-28973800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:28973000-28973800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr6:28973000-28973800	Active TSS	Brain Anterior Caudate	brain
23	chr6:28973000-28973800	Active TSS	Brain Germinal Matrix	brain
24	chr6:28973000-28973800	Active TSS	Colon Smooth Muscle	Colon
25	chr6:28973000-28973800	Active TSS	Fetal Intestine Small	intestine
26	chr6:28973000-28973800	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:28973000-28973800	Active TSS	A549	lung
28	chr6:28973000-28973800	Active TSS	HMEC	breast
29	chr6:28973000-28973800	Flanking Active TSS	HUVEC	blood vessel
30	chr6:28973000-28974000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:28973000-28974000	Active TSS	K562	blood
32	chr6:28973200-28973800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:28973200-28973800	Active TSS	Fetal Brain Male	brain
34	chr6:28973200-28973800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:28973200-28973800	Active TSS	Fetal Stomach	stomach
36	chr6:28973200-28974000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:28973200-28974000	Active TSS	Fetal Brain Female	brain
38	chr6:28973400-28973800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr6:28973400-28974200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:28973600-28973800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:28973600-28973800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr6:28973600-28973800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:28973600-28973800	Active TSS	Rectal Smooth Muscle	rectum
44	chr6:28973600-28973800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
45	chr6:28973600-28973800	Active TSS	NH-A	brain
46	chr6:28973600-28973800	Enhancers	NHEK	skin
47	chr6:28973600-28974000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr6:28973600-28974000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:28973600-28974000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:28973600-28974000	Enhancers	Hela-S3	cervix

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