Variant report

Variant	rs61004241
Chromosome Location	chr1:224693717-224693718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224313817..224316131-chr1:224691933..224694076,2	MCF-7	breast:
2	chr1:224691785..224694347-chr1:224730070..224732197,2	K562	blood:
3	chr1:224693369..224695979-chr1:224697952..224700518,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13376231	1.00[EUR][1000 genomes]
rs55787629	1.00[EUR][1000 genomes]
rs57898225	1.00[EUR][1000 genomes]
rs59066189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60544953	1.00[EUR][1000 genomes]
rs60976873	1.00[EUR][1000 genomes]
rs61155218	1.00[EUR][1000 genomes]
rs61479600	1.00[EUR][1000 genomes]
rs6676481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74146364	1.00[EUR][1000 genomes]
rs74146365	1.00[EUR][1000 genomes]
rs74146366	1.00[EUR][1000 genomes]
rs74146367	1.00[EUR][1000 genomes]
rs74146368	1.00[EUR][1000 genomes]
rs7522430	1.00[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv947162	chr1:224690408-224695941	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:224688600-224694400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:224689600-224694600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:224689600-224694800	Enhancers	HMEC	breast
5	chr1:224689800-224694800	Enhancers	Adipose Nuclei	Adipose
6	chr1:224690000-224694400	Enhancers	NHLF	lung
7	chr1:224690000-224694800	Enhancers	NHDF-Ad	bronchial
8	chr1:224690000-224699400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:224690000-224702000	Enhancers	Liver	Liver
10	chr1:224690200-224697200	Weak transcription	Gastric	stomach
11	chr1:224691400-224694400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:224691600-224694000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224691600-224694600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:224691800-224693800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:224691800-224694000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224691800-224694000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:224691800-224694600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:224691800-224694600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:224691800-224695000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:224691800-224695600	Weak transcription	Small Intestine	intestine
21	chr1:224691800-224698400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:224692000-224693800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:224692000-224693800	Weak transcription	Osteobl	bone
24	chr1:224692000-224694000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:224692000-224694000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:224692000-224694000	Weak transcription	Esophagus	oesophagus
27	chr1:224692000-224694000	Weak transcription	Spleen	Spleen
28	chr1:224692000-224694400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:224692000-224696000	Weak transcription	Fetal Kidney	kidney
30	chr1:224692000-224697000	Weak transcription	GM12878-XiMat	blood
31	chr1:224692000-224697400	Weak transcription	Fetal Stomach	stomach
32	chr1:224692000-224697400	Enhancers	HepG2	liver
33	chr1:224692000-224698400	Weak transcription	HSMM	muscle
34	chr1:224692000-224698400	Weak transcription	HSMMtube	muscle
35	chr1:224692000-224701600	Weak transcription	Fetal Lung	lung
36	chr1:224692200-224693800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:224692200-224693800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:224692200-224693800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:224692200-224694000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:224692400-224693800	Weak transcription	Fetal Brain Male	brain
41	chr1:224692400-224694000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:224692400-224694000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:224692400-224697800	Weak transcription	Placenta	Placenta
44	chr1:224692400-224701600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:224692600-224693800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:224692600-224693800	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:224692600-224693800	Weak transcription	Pancreas	Pancrea
48	chr1:224692600-224693800	Weak transcription	Right Atrium	heart
49	chr1:224692600-224694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:224692600-224694000	Weak transcription	Brain Germinal Matrix	brain

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