Variant report

Variant	rs73971693
Chromosome Location	chr2:173943405-173943406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173941095..173943931-chr2:174073550..174075773,3	MCF-7	breast:
2	chr2:173942302..173944887-chr2:173980344..173983035,2	K562	blood:
3	chr2:173924576..173926125-chr2:173943190..173944804,2	K562	blood:
4	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56200856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57073707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57131128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57152825	1.00[AMR][1000 genomes]
rs60769697	1.00[AMR][1000 genomes]
rs6707106	1.00[AMR][1000 genomes]
rs6751482	1.00[AMR][1000 genomes]
rs73971692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73971696	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73971888	1.00[AMR][1000 genomes]
rs73971891	1.00[AMR][1000 genomes]
rs73974104	1.00[AMR][1000 genomes]
rs73974106	1.00[AMR][1000 genomes]
rs73974108	1.00[AMR][1000 genomes]
rs73974109	1.00[AMR][1000 genomes]
rs73974110	1.00[AMR][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173940400-173943600	Active TSS	Right Ventricle	heart
2	chr2:173941600-173943600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:173941600-173947200	Weak transcription	Gastric	stomach
4	chr2:173941600-173955200	Weak transcription	Lung	lung
5	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
6	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
7	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:173942000-173943800	Weak transcription	Left Ventricle	heart
10	chr2:173942000-173944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:173942000-173945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:173942000-173946600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:173942000-173951400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:173942000-173953000	Weak transcription	Stomach Mucosa	stomach
15	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
18	chr2:173942200-173943800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:173942200-173943800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr2:173942200-173946200	Weak transcription	Primary T cells from cord blood	blood
21	chr2:173942600-173943600	Flanking Active TSS	A549	lung
22	chr2:173942600-173944000	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr2:173942600-173944200	Enhancers	Fetal Stomach	stomach
24	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:173942800-173943600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:173942800-173944000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:173942800-173944000	Enhancers	Fetal Intestine Small	intestine
28	chr2:173942800-173944000	Enhancers	Fetal Lung	lung
29	chr2:173942800-173944800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:173942800-173944800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:173942800-173944800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:173942800-173946200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:173942800-173954800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
36	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:173943000-173943600	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:173943000-173943600	Enhancers	Osteobl	bone
39	chr2:173943000-173943800	Enhancers	Small Intestine	intestine
40	chr2:173943000-173944000	Enhancers	Liver	Liver
41	chr2:173943000-173944000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr2:173943000-173944200	Enhancers	Brain Germinal Matrix	brain
43	chr2:173943000-173944400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:173943000-173944400	Weak transcription	HSMM	muscle
45	chr2:173943000-173944600	Enhancers	Ovary	ovary
46	chr2:173943000-173944800	Enhancers	Psoas Muscle	Psoas
47	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
48	chr2:173943200-173943600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:173943200-173943800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:173943200-173944000	Enhancers	Fetal Heart	heart

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