Variant report

Variant	rs73003971
Chromosome Location	chr1:114637196-114637197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114636837..114637669-chr11:18354283..18354889,2	MCF-7	breast:
2	chr1:114635004..114637775-chr1:114660348..114663171,3	MCF-7	breast:
3	chr1:114635427..114637656-chr1:114664752..114666679,2	MCF-7	breast:
4	chr1:114636253..114637885-chr1:114697898..114700457,2	MCF-7	breast:
5	chr1:114634509..114637387-chr1:114642285..114643909,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1039538	1.00[ASN][1000 genomes]
rs1394074	1.00[ASN][1000 genomes]
rs35061908	1.00[ASN][1000 genomes]
rs41274108	1.00[ASN][1000 genomes]
rs59099346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61013095	1.00[ASN][1000 genomes]
rs61324555	1.00[ASN][1000 genomes]
rs72988605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72988610	1.00[ASN][1000 genomes]
rs73003974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73003979	1.00[AFR][1000 genomes];1.00[AMR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
4	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
5	chr1:114631400-114638400	Enhancers	Fetal Lung	lung
6	chr1:114631400-114638800	Weak transcription	Fetal Brain Female	brain
7	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:114633000-114637600	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr1:114633000-114648000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:114634200-114648400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:114634600-114637800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:114634800-114639600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:114635800-114639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:114636000-114637400	Enhancers	NHEK	skin
15	chr1:114636000-114637600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:114636000-114637600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:114636000-114637600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:114636000-114637600	Enhancers	NH-A	brain
19	chr1:114636000-114637800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:114636000-114637800	Enhancers	HMEC	breast
21	chr1:114636000-114637800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:114636000-114638200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:114636200-114637200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:114636200-114637200	Enhancers	Left Ventricle	heart
25	chr1:114636200-114637400	Enhancers	HSMM	muscle
26	chr1:114636200-114638200	Genic enhancers	H9 Cell Line	embryonic stem cell
27	chr1:114636400-114639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:114636600-114637200	Enhancers	Osteobl	bone
29	chr1:114636600-114637400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:114636600-114637400	Enhancers	HSMMtube	muscle
31	chr1:114636600-114637600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:114636600-114637600	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:114636600-114637800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:114636600-114637800	Enhancers	Fetal Stomach	stomach
35	chr1:114636600-114638200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:114636800-114637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:114636800-114637600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:114636800-114637800	Enhancers	Fetal Muscle Leg	muscle
39	chr1:114636800-114637800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:114636800-114638600	Weak transcription	Fetal Heart	heart
41	chr1:114637000-114637200	Enhancers	Colon Smooth Muscle	Colon
42	chr1:114637000-114637400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:114637000-114637600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:114637000-114638000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:114637000-114638200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:114637000-114642400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:114637000-114644200	Weak transcription	Fetal Brain Male	brain

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