Variant report

Variant	rs73386298
Chromosome Location	chr12:105024914-105024915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105024362..105026244-chr12:105028872..105032799,3	K562	blood:
2	chr12:105019261..105021601-chr12:105023611..105025771,3	MCF-7	breast:
3	chr12:105001524..105004120-chr12:105024508..105026031,2	K562	blood:
4	chr12:105018222..105019990-chr12:105021264..105025208,3	K562	blood:
5	chr12:104994126..104996076-chr12:105024085..105026478,2	K562	blood:
6	chr12:105020022..105022251-chr12:105023381..105025476,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11833657	1.00[AFR][1000 genomes]
rs73386276	1.00[AFR][1000 genomes]
rs73386283	1.00[AFR][1000 genomes]
rs73388107	1.00[AFR][1000 genomes]
rs73388120	1.00[AFR][1000 genomes]
rs73388122	1.00[AFR][1000 genomes]
rs73388131	1.00[AFR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104989400-105030600	Strong transcription	Dnd41	blood
2	chr12:104998800-105031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:104999000-105026800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:105000400-105026000	Weak transcription	NHLF	lung
5	chr12:105006000-105028200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105009400-105028200	Weak transcription	Placenta	Placenta
8	chr12:105010200-105031600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:105011000-105026200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:105013000-105026400	Weak transcription	Fetal Thymus	thymus
11	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:105014000-105026400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:105016000-105031400	Weak transcription	GM12878-XiMat	blood
14	chr12:105016800-105025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:105017000-105025800	Weak transcription	Lung	lung
16	chr12:105017000-105036000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:105018000-105028400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:105018200-105026000	Weak transcription	Spleen	Spleen
19	chr12:105018200-105027800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:105018200-105031600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:105018400-105027000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:105019000-105026400	Weak transcription	K562	blood
23	chr12:105020400-105031400	Weak transcription	A549	lung
24	chr12:105020800-105037800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:105021000-105026200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:105021000-105032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:105021000-105037800	Weak transcription	NHEK	skin
28	chr12:105021600-105026600	Enhancers	Fetal Muscle Leg	muscle
29	chr12:105021800-105027600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:105022000-105026800	Weak transcription	Right Ventricle	heart
31	chr12:105022000-105030800	Weak transcription	Right Atrium	heart
32	chr12:105022200-105025800	Weak transcription	Left Ventricle	heart
33	chr12:105022400-105026400	Weak transcription	NH-A	brain
34	chr12:105022400-105028400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:105022400-105048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:105022600-105025000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:105022600-105026400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:105022800-105025600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:105022800-105031400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:105022800-105043200	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:105023000-105029200	Weak transcription	Fetal Brain Female	brain
42	chr12:105023000-105036800	Weak transcription	Primary T cells from cord blood	blood
43	chr12:105023200-105026200	Weak transcription	Small Intestine	intestine
44	chr12:105023200-105031600	Weak transcription	Primary B cells from cord blood	blood
45	chr12:105023800-105025200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:105023800-105025200	Enhancers	HSMMtube	muscle
47	chr12:105023800-105025400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:105023800-105025400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:105023800-105025800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:105023800-105025800	Enhancers	HUES6 Cell Line	embryonic stem cell

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