Variant report

Variant	rs28362860
Chromosome Location	chr6:44227224-44227225
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	POLR2A	chr6:44220531-44227269	GM19099	blood:	n/a	n/a
2	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
3	POLR2A	chr6:44226934-44227304	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:44213416-44233519	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:44213785-44233471	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:44224362-44227275	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:44213479-44233557	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:44221854-44228812	GM19193	blood:	n/a	n/a
10	POLR2A	chr6:44213632-44233614	GM12878	blood:	n/a	n/a
11	CHD2	chr6:44224544-44229859	GM12878	blood:	n/a	chr6:44225411-44225421 chr6:44224708-44224718
12	POLR2A	chr6:44216490-44233394	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:44224399-44227355	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:44213681-44227286	GM12891	blood:	n/a	n/a
15	ESRRA	chr6:44222591-44234485	GM12878	blood:	n/a	chr6:44225492-44225508 chr6:44225493-44225512 chr6:44225493-44225507 chr6:44225491-44225509 chr6:44231630-44231646 chr6:44225492-44225502
16	POLR2A	chr6:44216005-44227276	GM12891	blood:	n/a	n/a
17	POLR2A	chr6:44220484-44228795	GM12892	blood:	n/a	n/a
18	POLR2A	chr6:44213932-44228913	GM12892	blood:	n/a	n/a
19	MTA3	chr6:44220355-44227326	GM12878	blood:	n/a	n/a
20	EBF1	chr6:44225291-44229335	GM12878	blood:	n/a	chr6:44228360-44228369 chr6:44228360-44228370 chr6:44228358-44228369 chr6:44228358-44228371
21	WRNIP1	chr6:44227021-44228917	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
2	chr6:44225090..44228269-chr6:44308012..44310883,3	K562	blood:

Variant related genes	Relation type
SLC35B2	TF binding region
ENSG00000249481	Chromatin interaction
ENSG00000146221	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2233423	1.00[ASN][1000 genomes]
rs7750723	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885855	chr6:44223010-44231479	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
12	nsv885856	chr6:44223010-44232920	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 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	chr6:44225400-44227600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:44225600-44230800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:44225600-44232600	Weak transcription	Aorta	Aorta
4	chr6:44225800-44227400	Weak transcription	Brain Angular Gyrus	brain
5	chr6:44225800-44227400	Weak transcription	Left Ventricle	heart
6	chr6:44225800-44229800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:44225800-44230000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:44225800-44230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:44225800-44230000	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr6:44225800-44230200	Weak transcription	Small Intestine	intestine
11	chr6:44225800-44230400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:44225800-44230400	Weak transcription	Right Atrium	heart
13	chr6:44225800-44230400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr6:44225800-44230400	Weak transcription	HMEC	breast
15	chr6:44225800-44230600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:44225800-44230600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:44225800-44230600	Weak transcription	Ovary	ovary
18	chr6:44225800-44230600	Weak transcription	NHDF-Ad	bronchial
19	chr6:44225800-44230800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:44225800-44230800	Weak transcription	Fetal Kidney	kidney
21	chr6:44225800-44230800	Weak transcription	Psoas Muscle	Psoas
22	chr6:44225800-44230800	Weak transcription	HSMM	muscle
23	chr6:44225800-44231000	Genic enhancers	Spleen	Spleen
24	chr6:44225800-44231400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:44226000-44227400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:44226000-44227400	Weak transcription	HSMMtube	muscle
27	chr6:44226000-44227400	Weak transcription	Osteobl	bone
28	chr6:44226000-44227600	Weak transcription	Primary T cells from cord blood	blood
29	chr6:44226000-44227600	Weak transcription	Brain Substantia Nigra	brain
30	chr6:44226000-44228000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:44226000-44228400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:44226000-44228600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr6:44226000-44228600	Strong transcription	Lung	lung
34	chr6:44226000-44229000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:44226000-44229200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:44226000-44229400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:44226000-44229400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr6:44226000-44229400	Strong transcription	Gastric	stomach
39	chr6:44226000-44229600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:44226000-44229800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:44226000-44229800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:44226000-44229800	Genic enhancers	Primary B cells from cord blood	blood
43	chr6:44226000-44229800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:44226000-44229800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:44226000-44229800	Strong transcription	Fetal Intestine Large	intestine
46	chr6:44226000-44229800	Strong transcription	Fetal Intestine Small	intestine
47	chr6:44226000-44229800	Weak transcription	A549	lung
48	chr6:44226000-44230000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:44226000-44230000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:44226000-44230000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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