Variant report

Variant	rs3777195
Chromosome Location	chr5:95240327-95240328
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	POLR2A	chr5:95236216-95242396	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95236444..95238161-chr5:95239043..95240626,2	K562	blood:
2	chr5:95238043..95241007-chr5:95244981..95247839,2	K562	blood:
3	chr5:95235423..95238252-chr5:95239767..95242687,2	MCF-7	breast:

Variant related genes	Relation type
ELL2	TF binding region
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12654157	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17085255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2279035	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2279036	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3756702	0.81[AMR][1000 genomes]
rs3777187	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs57584041	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58029921	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58030063	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59649666	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61278429	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
6	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:95219800-95244400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:95220000-95242000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:95220000-95245200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:95220600-95243200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:95220800-95240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:95221600-95252200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:95222000-95241600	Strong transcription	GM12878-XiMat	blood
14	chr5:95222000-95252200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
17	chr5:95227400-95251600	Weak transcription	Primary T cells from cord blood	blood
18	chr5:95227400-95253800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:95227600-95242400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:95227600-95244600	Weak transcription	Small Intestine	intestine
21	chr5:95231200-95254000	Weak transcription	Fetal Stomach	stomach
22	chr5:95231800-95242200	Weak transcription	Pancreas	Pancrea
23	chr5:95231800-95242400	Weak transcription	Right Ventricle	heart
24	chr5:95231800-95243200	Weak transcription	Lung	lung
25	chr5:95231800-95244200	Weak transcription	Ovary	ovary
26	chr5:95232200-95244600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:95232400-95255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:95232600-95244600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:95232600-95247400	Weak transcription	Aorta	Aorta
30	chr5:95232800-95240600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:95232800-95242000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:95232800-95242200	Weak transcription	Gastric	stomach
33	chr5:95232800-95243000	Weak transcription	Esophagus	oesophagus
34	chr5:95232800-95244200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:95232800-95244600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:95234200-95251800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:95234400-95244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:95234400-95251800	Weak transcription	Fetal Thymus	thymus
39	chr5:95234600-95244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:95235000-95242400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:95235000-95251800	Weak transcription	Primary B cells from cord blood	blood
42	chr5:95235800-95242000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:95236000-95247600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:95236000-95251600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:95236200-95254200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:95236400-95242400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:95236400-95243000	Weak transcription	Psoas Muscle	Psoas
48	chr5:95236400-95243200	Weak transcription	Adipose Nuclei	Adipose
49	chr5:95236400-95249600	Weak transcription	Fetal Lung	lung
50	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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