Variant report

Variant	rs7301885
Chromosome Location	chr12:4725134-4725135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4724909..4726859-chr12:4756521..4758491,2	K562	blood:
2	chr12:4717083..4718773-chr12:4723734..4726455,2	K562	blood:

Variant related genes	Relation type
ENSG00000111254	Chromatin interaction
ENSG00000139180	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10744657	1.00[AMR][1000 genomes]
rs10774251	0.85[YRI][hapmap]
rs11063265	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12300102	1.00[MEX][hapmap]
rs1981654	1.00[MEX][hapmap]
rs1990312	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4766262	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4766265	1.00[AMR][1000 genomes]
rs4766268	1.00[AMR][1000 genomes]
rs6416318	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6489556	1.00[AMR][1000 genomes]
rs7132398	1.00[AMR][1000 genomes]
rs7133798	1.00[AMR][1000 genomes]
rs7298334	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
5	chr12:4714800-4725800	Weak transcription	Fetal Brain Male	brain
6	chr12:4714800-4726600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:4715200-4725400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:4715200-4726400	Weak transcription	Fetal Heart	heart
9	chr12:4716000-4726400	Weak transcription	HUVEC	blood vessel
10	chr12:4716000-4726400	Weak transcription	NHDF-Ad	bronchial
11	chr12:4716200-4725400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:4716400-4725400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:4716400-4726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:4716400-4727200	Weak transcription	HepG2	liver
15	chr12:4716800-4725400	Strong transcription	Primary T cells from cord blood	blood
16	chr12:4717000-4725800	Strong transcription	Primary B cells from cord blood	blood
17	chr12:4717600-4725400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:4718400-4725200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:4718800-4725400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr12:4718800-4725400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:4718800-4725600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:4719000-4725200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:4719000-4725200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:4719000-4725600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:4719200-4725400	Strong transcription	GM12878-XiMat	blood
26	chr12:4719200-4725600	Strong transcription	Liver	Liver
27	chr12:4719200-4726000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:4719400-4725200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:4719400-4725200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:4719400-4725200	Strong transcription	Adipose Nuclei	Adipose
31	chr12:4719400-4725200	Strong transcription	Fetal Intestine Large	intestine
32	chr12:4719400-4725200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:4719400-4725400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:4719400-4725400	Strong transcription	Brain Anterior Caudate	brain
35	chr12:4719400-4725400	Strong transcription	Left Ventricle	heart
36	chr12:4719400-4725400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:4719600-4725400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:4719600-4725400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:4720400-4726600	Weak transcription	NHEK	skin
40	chr12:4721200-4727200	Weak transcription	Psoas Muscle	Psoas
41	chr12:4721600-4725200	Strong transcription	Fetal Intestine Small	intestine
42	chr12:4722000-4725400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:4722200-4725200	Strong transcription	A549	lung
44	chr12:4722400-4725200	Strong transcription	Spleen	Spleen
45	chr12:4722800-4725800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:4723200-4725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:4723200-4725400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:4723200-4726600	Weak transcription	Placenta	Placenta
49	chr12:4723200-4726600	Weak transcription	Small Intestine	intestine
50	chr12:4723400-4725200	Weak transcription	NHLF	lung

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