Variant report

Variant	rs928821
Chromosome Location	chr6:30419076-30419077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30292876..30295211-chr6:30419006..30421683,2	K562	blood:
3	chr6:30415302..30418095-chr6:30418692..30421060,4	K562	blood:
4	chr6:30320856..30322716-chr6:30417806..30419569,2	K562	blood:

Variant related genes	Relation type
ENSG00000204599	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000270604	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1150770	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1264513	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1264516	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1268445	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2105961	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2187974	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2187975	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516674	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516677	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2524178	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2524179	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2524182	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2524186	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2524201	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844730	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3094716	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs915666	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs978009	0.85[AMR][1000 genomes];0.83[EUR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30417200-30421600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr6:30417600-30419600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:30417600-30419800	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:30418000-30419200	Bivalent Enhancer	GM12878-XiMat	blood
5	chr6:30418200-30419400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30418200-30419400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr6:30418200-30419600	Bivalent Enhancer	Placenta	Placenta
8	chr6:30418400-30419200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:30418400-30419200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr6:30418400-30419200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:30418400-30419200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr6:30418400-30419200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr6:30418400-30419200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:30418400-30419200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:30418400-30419200	Enhancers	Right Ventricle	heart
16	chr6:30418400-30419400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:30418400-30419400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:30418400-30419400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:30418400-30419400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
20	chr6:30418400-30419400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
21	chr6:30418400-30419600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr6:30418400-30419600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr6:30418400-30419600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr6:30418400-30419600	Bivalent Enhancer	Liver	Liver
25	chr6:30418400-30419600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr6:30418400-30419800	Bivalent Enhancer	Esophagus	oesophagus
27	chr6:30418400-30419800	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr6:30418400-30419800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr6:30418400-30421600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr6:30418400-30421600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr6:30418600-30419200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
32	chr6:30418600-30419200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:30418600-30419200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:30418600-30419200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr6:30418600-30419200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr6:30418600-30419200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr6:30418600-30419200	Bivalent Enhancer	HMEC	breast
38	chr6:30418600-30419200	Bivalent/Poised TSS	Osteobl	bone
39	chr6:30418600-30419400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:30418600-30419400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:30418600-30419400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:30418600-30419600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr6:30418800-30419200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr6:30418800-30419200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:30418800-30419200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:30418800-30419200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
47	chr6:30418800-30419200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr6:30418800-30419200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:30418800-30419200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr6:30418800-30419200	Flanking Active TSS	Ovary	ovary

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