Variant report

Variant	rs4075914
Chromosome Location	chr12:48537629-48537630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48536767..48541851-chr12:48541890..48543935,4	MCF-7	breast:
2	chr12:48512550..48515165-chr12:48537351..48539003,2	MCF-7	breast:
3	chr12:48534151..48536064-chr12:48536887..48539029,3	K562	blood:

Variant related genes	Relation type
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1004746	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1004806	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10506277	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12301562	0.83[EUR][1000 genomes]
rs17224674	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17225261	0.89[AMR][1000 genomes]
rs17225366	0.89[AMR][1000 genomes]
rs17225751	0.89[AMR][1000 genomes]
rs17607800	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17824200	0.89[AMR][1000 genomes]
rs2228501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3936179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41291959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41291961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55682541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55707383	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55752728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794326	0.89[AMR][1000 genomes]
rs55886138	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55890195	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55894137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55945889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55953382	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56049209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56116946	0.89[AMR][1000 genomes]
rs56187356	0.93[EUR][1000 genomes]
rs56205628	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56288528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378908	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60209369	0.83[EUR][1000 genomes]
rs74089155	0.93[EUR][1000 genomes]
rs74089159	0.82[EUR][1000 genomes]
rs74089163	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv558790	chr12:48529168-48539888	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a
5	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4075914	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
6	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
11	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
12	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
19	chr12:48520800-48547400	Strong transcription	Fetal Brain Female	brain
20	chr12:48523400-48546600	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:48523800-48540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:48523800-48547400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:48525000-48539800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:48525600-48546200	Strong transcription	A549	lung
25	chr12:48526200-48547600	Strong transcription	Adipose Nuclei	Adipose
26	chr12:48526400-48540200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:48526400-48543600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:48527200-48538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:48529200-48542000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:48529600-48539600	Weak transcription	K562	blood
31	chr12:48530200-48547600	Strong transcription	Placenta	Placenta
32	chr12:48530400-48539800	Strong transcription	Fetal Intestine Small	intestine
33	chr12:48531000-48540400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:48531000-48540800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:48531000-48541400	Strong transcription	Brain Anterior Caudate	brain
36	chr12:48531000-48541800	Strong transcription	Fetal Lung	lung
37	chr12:48531000-48546400	Strong transcription	Brain Angular Gyrus	brain
38	chr12:48531000-48547400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:48531000-48547800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:48531200-48540200	Strong transcription	Ovary	ovary
41	chr12:48531200-48540200	Strong transcription	NHLF	lung
42	chr12:48531200-48540400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:48531200-48540400	Strong transcription	Colon Smooth Muscle	Colon
44	chr12:48531200-48540400	Strong transcription	NHEK	skin
45	chr12:48531200-48540600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:48531200-48540800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:48531200-48541200	Strong transcription	NH-A	brain
48	chr12:48531200-48541400	Strong transcription	Brain Germinal Matrix	brain
49	chr12:48531200-48542200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:48531200-48547400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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