Variant report

Variant	rs7567603
Chromosome Location	chr2:173944045-173944046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12619395	1.00[AFR][1000 genomes]
rs12623346	1.00[AFR][1000 genomes]
rs1345008	1.00[AFR][1000 genomes]
rs17760587	1.00[AFR][1000 genomes]
rs3769202	1.00[AFR][1000 genomes]
rs6710789	1.00[AFR][1000 genomes]
rs7425411	1.00[AFR][1000 genomes]
rs752729	1.00[AFR][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173947200	Weak transcription	Gastric	stomach
2	chr2:173941600-173955200	Weak transcription	Lung	lung
3	chr2:173941600-173955200	Weak transcription	Pancreas	Pancrea
4	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
5	chr2:173941800-173955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:173941800-173955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173942000-173944400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:173942000-173945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:173942000-173946600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:173942000-173951400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:173942000-173953000	Weak transcription	Stomach Mucosa	stomach
12	chr2:173942000-173955200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:173942000-173955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:173942000-173956000	Weak transcription	Fetal Thymus	thymus
15	chr2:173942200-173946200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:173942600-173944200	Enhancers	Fetal Stomach	stomach
17	chr2:173942600-173956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:173942800-173944800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:173942800-173944800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:173942800-173944800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:173942800-173946200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:173942800-173954800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:173942800-173955800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
25	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:173943000-173944200	Enhancers	Brain Germinal Matrix	brain
27	chr2:173943000-173944400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:173943000-173944400	Weak transcription	HSMM	muscle
29	chr2:173943000-173944600	Enhancers	Ovary	ovary
30	chr2:173943000-173944800	Enhancers	Psoas Muscle	Psoas
31	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
32	chr2:173943200-173945200	Enhancers	Right Atrium	heart
33	chr2:173943200-173945600	Enhancers	Hela-S3	cervix
34	chr2:173943200-173955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:173943400-173944800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:173943400-173945000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:173943400-173945600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:173943400-173945600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:173943400-173945600	Enhancers	NH-A	brain
40	chr2:173943400-173946200	Weak transcription	HepG2	liver
41	chr2:173943400-173951200	Weak transcription	Aorta	Aorta
42	chr2:173943400-173955200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:173943400-173955200	Weak transcription	Dnd41	blood
44	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
45	chr2:173943600-173944200	Transcr. at gene 5' and 3'	A549	lung
46	chr2:173943600-173945200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:173943600-173945400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:173943600-173947200	Weak transcription	Right Ventricle	heart
49	chr2:173943800-173944400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr2:173943800-173944600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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