Variant report

Variant	rs60865612
Chromosome Location	chr7:127678425-127678426
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	chr7:127678411-127678442	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127677611..127678517-chr7:127849902..127850474,3	MCF-7	breast:
2	chr7:127671510..127674497-chr7:127677944..127679496,2	K562	blood:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000128594	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55673039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.81[AFR][1000 genomes]
rs57683992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57866092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659499	0.81[AFR][1000 genomes]
rs60776739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60805384	0.81[AFR][1000 genomes]
rs61180975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	0.81[AFR][1000 genomes]
rs73721251	0.81[AFR][1000 genomes]
rs73721255	0.81[AFR][1000 genomes]
rs73721260	0.81[AFR][1000 genomes]
rs73721262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721265	0.81[AFR][1000 genomes]
rs73721267	0.81[AFR][1000 genomes]
rs73721268	0.87[AFR][1000 genomes]
rs73721270	0.87[AFR][1000 genomes]
rs73721274	0.87[AFR][1000 genomes]
rs73721275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721283	1.00[AMR][1000 genomes]
rs73721284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
3	chr7:127669600-127718200	Weak transcription	A549	lung
4	chr7:127670400-127698800	Weak transcription	Dnd41	blood
5	chr7:127670800-127681400	Weak transcription	HepG2	liver
6	chr7:127672200-127681000	Weak transcription	NHEK	skin
7	chr7:127672200-127681400	Weak transcription	NHDF-Ad	bronchial
8	chr7:127672600-127695400	Weak transcription	Aorta	Aorta
9	chr7:127672800-127682200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:127673000-127680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:127673000-127681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:127673000-127681800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:127673000-127692600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:127673000-127692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:127673200-127680800	Weak transcription	NHLF	lung
17	chr7:127673200-127681000	Weak transcription	HMEC	breast
18	chr7:127673200-127681800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:127673200-127682400	Weak transcription	Lung	lung
20	chr7:127673200-127682400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:127673200-127684000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:127673200-127684800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:127673200-127692600	Weak transcription	Right Atrium	heart
24	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
25	chr7:127673400-127680600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:127673400-127681000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:127673400-127682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127673400-127682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:127673400-127682400	Weak transcription	Placenta	Placenta
30	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
32	chr7:127673600-127679200	Weak transcription	Fetal Intestine Large	intestine
33	chr7:127673600-127680800	Weak transcription	Brain Angular Gyrus	brain
34	chr7:127673600-127680800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:127673600-127681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:127673600-127681200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:127673600-127681800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:127673600-127682400	Weak transcription	Spleen	Spleen
39	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
40	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:127673600-127692200	Weak transcription	Gastric	stomach
42	chr7:127673800-127679200	Weak transcription	Fetal Intestine Small	intestine
43	chr7:127673800-127680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:127673800-127680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:127673800-127681400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:127673800-127682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:127674000-127680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:127674000-127680800	Weak transcription	Primary B cells from cord blood	blood

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