Variant report

Variant	rs7135581
Chromosome Location	chr12:104857619-104857620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104849098..104852771-chr12:104856010..104858132,3	MCF-7	breast:
2	chr12:104850167..104852071-chr12:104856695..104858540,2	MCF-7	breast:
3	chr12:104852129..104854253-chr12:104856135..104858649,2	MCF-7	breast:
4	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10735397	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778334	0.83[EUR][1000 genomes]
rs12299738	1.00[ASN][1000 genomes]
rs1922261	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953927	0.86[EUR][1000 genomes];1.00[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853400-104862200	Weak transcription	Gastric	stomach
3	chr12:104853400-104863000	Weak transcription	Pancreas	Pancrea
4	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
5	chr12:104853600-104858200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:104853600-104858800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:104854200-104862600	Weak transcription	Fetal Brain Female	brain
10	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:104854800-104858800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:104855000-104859200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:104855200-104859000	Weak transcription	Colonic Mucosa	Colon
14	chr12:104855200-104861200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:104855200-104861200	Enhancers	Fetal Thymus	thymus
16	chr12:104855200-104863800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:104855400-104858800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:104855400-104859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:104855400-104861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:104855400-104862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:104855400-104862800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:104855400-104863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:104855400-104864800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:104855400-104866400	Weak transcription	Brain Germinal Matrix	brain
27	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:104855600-104858200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:104855600-104860600	Weak transcription	HMEC	breast
31	chr12:104855600-104860800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:104856000-104857800	Enhancers	HUVEC	blood vessel
33	chr12:104856000-104858000	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:104856000-104858400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:104856000-104861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:104856200-104857800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr12:104856200-104857800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr12:104856200-104857800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr12:104856200-104857800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:104856200-104857800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:104856200-104857800	Enhancers	Liver	Liver
42	chr12:104856200-104857800	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:104856200-104857800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:104856200-104859600	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr12:104856400-104858200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:104856600-104857800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:104856600-104857800	Enhancers	Right Atrium	heart
48	chr12:104856600-104857800	Enhancers	A549	lung
49	chr12:104856800-104857800	Enhancers	Small Intestine	intestine
50	chr12:104856800-104858800	Enhancers	Primary hematopoietic stem cells	blood

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