Variant report

Variant	rs60902216
Chromosome Location	chr6:25987942-25987943
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	chr6:25987418-25987981	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:25987495-25989595	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:25987408-25988530	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:25981126-25993466	K562	blood:	n/a	n/a
5	POLR2A	chr6:25986431-25988643	GM12891	blood:	n/a	n/a
6	POLR2A	chr6:25987646-25988249	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:25987717-25988007	GM12891	blood:	n/a	n/a
8	POLR2A	chr6:25987456-25988677	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:25986993..25989413-chr6:26005770..26007625,2	MCF-7	breast:
2	chr6:25985799..25990027-chr6:25991112..25994943,7	MCF-7	breast:
3	chr6:25983493..25989204-chr6:25990743..25993962,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272065	TF binding region
ENSG00000272462	TF binding region
ENSG00000272065	Chromatin interaction
ENSG00000272462	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1078542	1.00[EUR][1000 genomes]
rs58764905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62625349	0.93[AFR][1000 genomes]
rs6909762	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6940331	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs736088	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv432857	chr6:25957109-26072445	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	451 gene(s)	inside rSNPs	diseases
8	nsv1015627	chr6:25973495-26100483	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
9	nsv538164	chr6:25973495-26100483	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	447 gene(s)	inside rSNPs	diseases
10	nsv1028456	chr6:25984457-26174993	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
11	nsv538165	chr6:25984457-26174993	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	873 gene(s)	inside rSNPs	diseases
12	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25967200-25992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:25967800-25992000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:25968800-25989400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:25969000-25989600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:25969200-25989400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:25971400-25989400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:25972200-25988600	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:25972400-25988800	Strong transcription	HSMM	muscle
9	chr6:25972600-25988600	Strong transcription	Osteobl	bone
10	chr6:25972800-25992000	Weak transcription	Right Ventricle	heart
11	chr6:25973600-25988000	Strong transcription	Placenta	Placenta
12	chr6:25973600-25989200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:25974800-25992000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:25974800-25992000	Weak transcription	A549	lung
15	chr6:25975200-25988600	Strong transcription	Primary B cells from cord blood	blood
16	chr6:25976400-25992000	Weak transcription	NH-A	brain
17	chr6:25978600-25988800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:25979200-25988400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr6:25980200-25988600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:25980200-25988800	Strong transcription	Adipose Nuclei	Adipose
21	chr6:25980400-25988600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:25980600-25988600	Strong transcription	Fetal Muscle Leg	muscle
23	chr6:25980600-25989400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:25981200-25988600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:25981200-25988600	Strong transcription	Thymus	Thymus
26	chr6:25981600-25988600	Strong transcription	Lung	lung
27	chr6:25981600-25989400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:25982200-25989000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:25982800-25992000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:25983000-25992000	Weak transcription	Brain Substantia Nigra	brain
31	chr6:25983800-25992000	Weak transcription	Pancreas	Pancrea
32	chr6:25983800-25992000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:25983800-25992200	Weak transcription	Gastric	stomach
34	chr6:25984000-25992000	Weak transcription	Small Intestine	intestine
35	chr6:25984000-25992200	Weak transcription	Stomach Mucosa	stomach
36	chr6:25984200-25992000	Weak transcription	NHEK	skin
37	chr6:25984400-25991400	Weak transcription	Hela-S3	cervix
38	chr6:25984400-25991600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:25984400-25991600	Weak transcription	Dnd41	blood
40	chr6:25984400-25992000	Weak transcription	Colonic Mucosa	Colon
41	chr6:25984400-25992000	Weak transcription	Ovary	ovary
42	chr6:25984400-25992000	Weak transcription	Psoas Muscle	Psoas
43	chr6:25984600-25988000	Weak transcription	HSMMtube	muscle
44	chr6:25984600-25991400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:25984600-25992000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:25984800-25992000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:25984800-25992000	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:25984800-25992000	Weak transcription	Esophagus	oesophagus
49	chr6:25984800-25992000	Weak transcription	Fetal Kidney	kidney
50	chr6:25985000-25992000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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