Variant report

Variant	rs60977073
Chromosome Location	chr6:149775081-149775082
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	TFAP2C	chr6:149775028-149776283	Hela-S3	cervix:	n/a	n/a
2	USF2	chr6:149775016-149775216	Hela-S3	cervix:	n/a	n/a
3	TFAP2A	chr6:149775053-149776259	Hela-S3	cervix:	n/a	chr6:149775750-149775758 chr6:149775851-149775865 chr6:149775853-149775863 chr6:149775853-149775863 chr6:149775851-149775865 chr6:149775851-149775863 chr6:149775853-149775863 chr6:149775750-149775758 chr6:149775853-149775863 chr6:149775750-149775758
4	STAT1	chr6:149774954-149776671	Hela-S3	cervix:	n/a	chr6:149775692-149775699
5	POLR2A	chr6:149775028-149776123	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149764839..149766396-chr6:149774052..149775951,2	MCF-7	breast:
2	chr6:149750637..149752761-chr6:149774465..149776310,2	MCF-7	breast:

Variant related genes	Relation type
ZC3H12D	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55757822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55806398	1.00[EUR][1000 genomes]
rs56862190	1.00[EUR][1000 genomes]
rs57485886	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58986430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60768089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779350	1.00[EUR][1000 genomes]
rs73779351	1.00[EUR][1000 genomes]
rs73779355	1.00[EUR][1000 genomes]
rs73779356	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73779359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779368	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779372	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746970	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7773242	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:149771600-149778000	Weak transcription	GM12878-XiMat	blood
8	chr6:149771800-149775600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:149771800-149775800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:149772200-149775200	Strong transcription	Spleen	Spleen
12	chr6:149772200-149776600	Enhancers	Liver	Liver
13	chr6:149772400-149776600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:149772400-149776600	Enhancers	Fetal Lung	lung
15	chr6:149772600-149776400	Enhancers	Small Intestine	intestine
16	chr6:149772600-149779400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:149772800-149776400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:149773000-149776800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:149773000-149778200	Weak transcription	Thymus	Thymus
21	chr6:149773000-149779600	Weak transcription	Primary T cells from cord blood	blood
22	chr6:149773000-149783400	Strong transcription	Primary B cells from cord blood	blood
23	chr6:149773200-149776600	Enhancers	Colonic Mucosa	Colon
24	chr6:149773200-149776600	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:149773400-149777000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:149773600-149775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:149773600-149775200	Weak transcription	Gastric	stomach
28	chr6:149773600-149778400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:149773800-149775200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:149774000-149775200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:149774000-149775800	Enhancers	Fetal Muscle Trunk	muscle
32	chr6:149774000-149777000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:149774200-149775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:149774400-149775200	Enhancers	Stomach Mucosa	stomach
35	chr6:149774600-149776600	Enhancers	Fetal Muscle Leg	muscle
36	chr6:149774600-149776800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:149774600-149777000	Bivalent Enhancer	Fetal Stomach	stomach
38	chr6:149774800-149775200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:149774800-149775200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:149774800-149775200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:149774800-149775200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:149774800-149775200	Enhancers	Adipose Nuclei	Adipose
43	chr6:149774800-149775200	Enhancers	Colon Smooth Muscle	Colon
44	chr6:149774800-149775200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr6:149774800-149775200	Enhancers	HepG2	liver
46	chr6:149774800-149775400	Enhancers	Brain Hippocampus Middle	brain
47	chr6:149774800-149775400	Enhancers	Fetal Kidney	kidney
48	chr6:149774800-149775400	Enhancers	NHDF-Ad	bronchial
49	chr6:149774800-149775600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:149774800-149775600	Enhancers	HSMMtube	muscle

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