Variant report

Variant	rs6466787
Chromosome Location	chr7:121081701-121081702
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	IRF1	chr7:121080853-121082280	K562	blood:	n/a	chr7:121081366-121081377 chr7:121081373-121081387 chr7:121081371-121081382 chr7:121081366-121081380 chr7:121081363-121081377 chr7:121081361-121081378 chr7:121081365-121081379 chr7:121081366-121081379 chr7:121081365-121081385 chr7:121081373-121081383 chr7:121081365-121081376 chr7:121081366-121081379 chr7:121081369-121081383 chr7:121081367-121081377 chr7:121081361-121081382 chr7:121081366-121081379 chr7:121081367-121081381
2	IRF1	chr7:121081022-121081866	K562	blood:	n/a	chr7:121081366-121081377 chr7:121081373-121081387 chr7:121081371-121081382 chr7:121081366-121081380 chr7:121081363-121081377 chr7:121081361-121081378 chr7:121081365-121081379 chr7:121081366-121081379 chr7:121081365-121081385 chr7:121081373-121081383 chr7:121081365-121081376 chr7:121081366-121081379 chr7:121081369-121081383 chr7:121081367-121081377 chr7:121081361-121081382 chr7:121081366-121081379 chr7:121081367-121081381
3	MAZ	chr7:121081635-121081780	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:121031207..121033515-chr7:121081375..121082898,2	K562	blood:
2	chr7:121073008..121075987-chr7:121081368..121083333,2	K562	blood:
3	chr7:121035002..121037392-chr7:121079786..121082049,2	K562	blood:

Variant related genes	Relation type
ENSG00000234985	TF binding region
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10270571	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12539623	1.00[EUR][1000 genomes]
rs17143522	1.00[EUR][1000 genomes]
rs17143563	1.00[EUR][1000 genomes]
rs17143570	1.00[EUR][1000 genomes]
rs2141358	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2244577	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402568	0.99[AFR][1000 genomes]
rs2463647	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2707487	0.87[YRI][hapmap]
rs28433587	1.00[EUR][1000 genomes]
rs41450350	1.00[EUR][1000 genomes]
rs41529646	1.00[EUR][1000 genomes]
rs57135280	1.00[EUR][1000 genomes]
rs59515746	1.00[EUR][1000 genomes]
rs59688740	1.00[EUR][1000 genomes]
rs60903610	1.00[EUR][1000 genomes]
rs61636283	1.00[EUR][1000 genomes]
rs6466786	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951843	0.83[AFR][1000 genomes]
rs73429156	1.00[EUR][1000 genomes]
rs73429163	1.00[EUR][1000 genomes]
rs73429166	1.00[EUR][1000 genomes]
rs73429169	1.00[EUR][1000 genomes]
rs73429170	1.00[EUR][1000 genomes]
rs73429173	1.00[EUR][1000 genomes]
rs73429175	1.00[EUR][1000 genomes]
rs73429176	1.00[EUR][1000 genomes]
rs73429178	1.00[EUR][1000 genomes]
rs73429179	1.00[EUR][1000 genomes]
rs73429184	1.00[EUR][1000 genomes]
rs73429185	1.00[EUR][1000 genomes]
rs73429186	1.00[EUR][1000 genomes]
rs73429187	1.00[EUR][1000 genomes]
rs73429189	1.00[EUR][1000 genomes]
rs73429190	1.00[EUR][1000 genomes]
rs73429191	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2757238	chr7:121059871-121089955	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759559	chr7:121059871-121089955	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121077800-121083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:121078600-121086600	Weak transcription	NHDF-Ad	bronchial
3	chr7:121078800-121082800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:121078800-121082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:121078800-121082800	Weak transcription	HMEC	breast
6	chr7:121078800-121087400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:121079000-121082800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:121079000-121082800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:121079000-121082800	Weak transcription	Thymus	Thymus
10	chr7:121079000-121095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:121079200-121082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:121079200-121082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:121080800-121081800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr7:121081000-121081800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:121081000-121081800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:121081000-121081800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr7:121081000-121081800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:121081000-121082000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:121081000-121082200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:121081000-121083200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:121081200-121081800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:121081200-121081800	Active TSS	GM12878-XiMat	blood
23	chr7:121081200-121082200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:121081200-121083000	Weak transcription	Lung	lung
25	chr7:121081200-121083000	Weak transcription	Pancreas	Pancrea
26	chr7:121081200-121086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:121081200-121088400	Weak transcription	Left Ventricle	heart
28	chr7:121081400-121081800	Enhancers	Primary B cells from peripheral blood	blood
29	chr7:121081400-121082800	Weak transcription	Esophagus	oesophagus
30	chr7:121081400-121082800	Weak transcription	Fetal Thymus	thymus
31	chr7:121081400-121083200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:121081400-121086600	Weak transcription	Adipose Nuclei	Adipose
33	chr7:121081400-121088400	Weak transcription	Placenta	Placenta
34	chr7:121081600-121081800	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:121081600-121082400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:121081600-121083200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr7:121081600-121083200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:121081600-121086600	Weak transcription	Rectal Smooth Muscle	rectum

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