Variant report

Variant	rs7512229
Chromosome Location	chr1:67509386-67509387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67508677..67511896-chr1:67517058..67520255,4	K562	blood:
2	chr1:67507302..67509909-chr1:67517359..67519557,2	MCF-7	breast:
3	chr1:67509294..67511950-chr1:67512459..67514669,2	K562	blood:
4	chr1:67389127..67391050-chr1:67506961..67509587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152763	Chromatin interaction
ENSG00000198160	Chromatin interaction
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10157422	0.82[AMR][1000 genomes]
rs12095648	0.86[AMR][1000 genomes]
rs56974914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553230	0.86[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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
2	chr1:67473800-67518000	Weak transcription	A549	lung
3	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:67486200-67516800	Weak transcription	NHEK	skin
6	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
7	chr1:67487800-67516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:67488400-67518000	Weak transcription	Right Ventricle	heart
9	chr1:67495400-67517000	Weak transcription	Small Intestine	intestine
10	chr1:67500200-67517200	Strong transcription	HSMM	muscle
11	chr1:67500400-67516400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:67500800-67515400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr1:67500800-67516000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:67500800-67516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:67500800-67516600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:67500800-67517000	Strong transcription	Adipose Nuclei	Adipose
17	chr1:67500800-67517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:67501000-67517400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:67501400-67516000	Strong transcription	Fetal Intestine Large	intestine
20	chr1:67501400-67516400	Strong transcription	NH-A	brain
21	chr1:67501600-67510000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr1:67501600-67510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:67501800-67510400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:67501800-67516000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:67501800-67516000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:67501800-67517000	Strong transcription	Fetal Thymus	thymus
27	chr1:67501800-67517200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr1:67502200-67515600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:67502200-67516200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:67502200-67516600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:67502400-67515000	Strong transcription	Primary T cells from cord blood	blood
32	chr1:67502400-67517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:67503000-67510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:67503000-67510600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr1:67503000-67510800	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:67503000-67510800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:67503000-67514800	Strong transcription	Placenta	Placenta
38	chr1:67503200-67510600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:67503200-67514000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:67503400-67509800	Strong transcription	Primary B cells from cord blood	blood
41	chr1:67503400-67510000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:67503400-67516200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:67503400-67516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:67503400-67516600	Strong transcription	Dnd41	blood
45	chr1:67503400-67517200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:67503800-67510600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:67503800-67511000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:67503800-67514200	Strong transcription	Brain Substantia Nigra	brain
49	chr1:67504000-67510200	Strong transcription	Thymus	Thymus
50	chr1:67504000-67514800	Strong transcription	Brain Anterior Caudate	brain

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