Variant report

Variant	rs1704906
Chromosome Location	chr12:104910516-104910517
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104909660..104911855-chr12:104915030..104918297,3	K562	blood:
2	chr12:104908202..104911501-chr12:104915065..104918852,3	MCF-7	breast:
3	chr12:104909053..104911961-chr12:104913731..104916040,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10778339	0.86[AFR][1000 genomes]
rs10861229	0.84[AFR][1000 genomes]
rs1624481	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1704909	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1795849	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1882496	0.81[ASN][1000 genomes]
rs1882497	0.81[ASN][1000 genomes]
rs7312273	0.81[ASN][1000 genomes]
rs7978035	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain
6	chr12:104904400-104910600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:104904400-104913400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:104904400-104916800	Weak transcription	A549	lung
9	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:104904600-104913200	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:104905000-104911000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:104905200-104911000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:104905200-104912000	Weak transcription	GM12878-XiMat	blood
14	chr12:104905200-104913200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:104905200-104913200	Weak transcription	Fetal Thymus	thymus
16	chr12:104905200-104913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:104905200-104913400	Weak transcription	Fetal Lung	lung
18	chr12:104905200-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:104905200-104916200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:104905200-104916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:104905400-104912400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:104905400-104912800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:104905400-104914000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:104905600-104912400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:104905600-104912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:104905600-104913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:104905600-104913200	Weak transcription	Aorta	Aorta
28	chr12:104905600-104913400	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:104905600-104913400	Weak transcription	Spleen	Spleen
30	chr12:104905800-104916800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:104906800-104912200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:104906800-104917600	Weak transcription	HSMM	muscle
33	chr12:104907200-104911200	Enhancers	Placenta	Placenta
34	chr12:104907400-104917000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:104907600-104911000	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:104907600-104912800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:104907600-104913200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:104907600-104917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:104907800-104911800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:104907800-104913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:104907800-104915200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:104908000-104913000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:104908000-104913000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:104908000-104913400	Weak transcription	Fetal Brain Female	brain
45	chr12:104908200-104911200	Weak transcription	Brain Germinal Matrix	brain
46	chr12:104908400-104913200	Weak transcription	Left Ventricle	heart
47	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
48	chr12:104909200-104911000	Weak transcription	Lung	lung
49	chr12:104909400-104910600	Enhancers	Gastric	stomach
50	chr12:104909400-104913800	Enhancers	Primary hematopoietic stem cells	blood

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