Variant report

Variant	rs6499250
Chromosome Location	chr16:69785794-69785795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69785030..69792317-chr16:69794435..69797821,11	MCF-7	breast:
2	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
3	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
4	chr16:69784937..69786887-chr16:69796034..69797734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181019	Chromatin interaction
ENSG00000262136	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10400956	0.88[ASN][1000 genomes]
rs11075736	0.94[ASN][1000 genomes]
rs1139177	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12149920	0.85[ASN][1000 genomes]
rs1318651	0.83[ASN][1000 genomes]
rs2088747	0.82[ASN][1000 genomes]
rs2291960	0.83[ASN][1000 genomes]
rs2917682	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2917683	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2937120	0.83[ASN][1000 genomes]
rs2937123	0.83[ASN][1000 genomes]
rs2937126	0.87[ASN][1000 genomes]
rs2937127	0.86[ASN][1000 genomes]
rs2965756	0.83[ASN][1000 genomes]
rs2965759	0.82[ASN][1000 genomes]
rs2965760	0.82[ASN][1000 genomes]
rs2965761	0.82[ASN][1000 genomes]
rs2965762	0.84[ASN][1000 genomes]
rs2965763	0.84[ASN][1000 genomes]
rs2965764	0.84[ASN][1000 genomes]
rs3790088	0.82[ASN][1000 genomes]
rs4247107	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4247109	0.95[ASN][1000 genomes]
rs4442796	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4608327	0.86[ASN][1000 genomes]
rs4619391	0.86[ASN][1000 genomes]
rs4985527	0.81[ASN][1000 genomes]
rs4985529	0.86[ASN][1000 genomes]
rs4985531	0.87[ASN][1000 genomes]
rs61090597	0.81[ASN][1000 genomes]
rs6499248	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499249	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499259	0.84[ASN][1000 genomes]
rs7188187	0.84[ASN][1000 genomes]
rs7204615	0.95[ASN][1000 genomes]
rs8050369	0.86[ASN][1000 genomes]
rs8052459	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8057938	0.94[ASN][1000 genomes]
rs8058594	0.83[ASN][1000 genomes]
rs8062076	0.88[ASN][1000 genomes]
rs9927105	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69761800-69787400	Weak transcription	Right Atrium	heart
2	chr16:69770400-69788000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:69771800-69786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:69772600-69786400	Strong transcription	Fetal Stomach	stomach
5	chr16:69772800-69786400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:69773000-69786000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:69773000-69786000	Strong transcription	Thymus	Thymus
8	chr16:69773000-69786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:69773000-69786200	Strong transcription	Fetal Brain Female	brain
10	chr16:69773000-69786200	Strong transcription	Dnd41	blood
11	chr16:69773000-69786400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:69773000-69786600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:69773000-69786600	Strong transcription	Fetal Thymus	thymus
14	chr16:69773000-69786800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:69773000-69787000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:69773000-69787000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:69773000-69787000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:69773000-69787000	Strong transcription	Fetal Muscle Leg	muscle
19	chr16:69773000-69787200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr16:69773200-69785800	Strong transcription	Pancreas	Pancrea
21	chr16:69773200-69786000	Strong transcription	GM12878-XiMat	blood
22	chr16:69773200-69786800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:69773400-69785800	Strong transcription	Fetal Lung	lung
24	chr16:69773400-69786200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:69773600-69786400	Strong transcription	K562	blood
26	chr16:69773800-69785800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr16:69773800-69786000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:69773800-69786200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr16:69773800-69786200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:69773800-69786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:69773800-69786400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr16:69773800-69786600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:69773800-69786600	Strong transcription	HSMM	muscle
34	chr16:69773800-69786800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:69774000-69785800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr16:69774000-69786200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr16:69774000-69786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:69774000-69786200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:69774000-69786200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:69774000-69786600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr16:69774200-69786200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr16:69774200-69786200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr16:69774200-69786400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:69774200-69786600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:69774400-69786400	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr16:69775000-69786400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr16:69775800-69785800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:69775800-69786400	Strong transcription	Brain Angular Gyrus	brain
49	chr16:69776000-69786400	Strong transcription	Liver	Liver
50	chr16:69776000-69786400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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