Variant report

Variant	rs3808057
Chromosome Location	chr7:127680693-127680694
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	JUND	chr7:127680647-127683412	SK-N-SH	brain:	n/a	chr7:127681424-127681434 chr7:127681425-127681433 chr7:127681546-127681560 chr7:127681423-127681434 chr7:127680891-127680900 chr7:127682140-127682152 chr7:127681421-127681432 chr7:127681426-127681433 chr7:127681425-127681434 chr7:127682983-127682992 chr7:127681423-127681435

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127679314..127682339-chr7:127683889..127685998,3	K562	blood:

Variant related genes	Relation type
SND1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10215276	0.81[EUR][1000 genomes]
rs10255861	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10260037	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1075206	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1193334	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1193337	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1362267	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1362897	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419969	0.89[EUR][1000 genomes]
rs17676908	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17676986	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17733988	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1833147	0.85[EUR][1000 genomes]
rs3757757	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757767	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3808058	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808073	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808084	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3808087	0.93[EUR][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6948493	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6963614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs720300	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73238074	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759056	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7786041	0.81[AMR][1000 genomes]
rs887745	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs917831	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][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:89 , 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	chr7:127673400-127681000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:127673400-127682200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:127673400-127682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:127673400-127682400	Weak transcription	Placenta	Placenta
29	chr7:127673400-127684000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:127673400-127684000	Weak transcription	Left Ventricle	heart
31	chr7:127673600-127680800	Weak transcription	Brain Angular Gyrus	brain
32	chr7:127673600-127680800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:127673600-127681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:127673600-127681200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:127673600-127681800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:127673600-127682400	Weak transcription	Spleen	Spleen
37	chr7:127673600-127692200	Weak transcription	Adipose Nuclei	Adipose
38	chr7:127673600-127692200	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:127673600-127692200	Weak transcription	Gastric	stomach
40	chr7:127673800-127680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:127673800-127680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:127673800-127681400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:127673800-127682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:127674000-127680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:127674000-127680800	Weak transcription	Primary B cells from cord blood	blood
48	chr7:127674200-127682600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:127674600-127682200	Weak transcription	Primary T cells from cord blood	blood
50	chr7:127674600-127692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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