Variant report

Variant	rs72871231
Chromosome Location	chr1:9802977-9802978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9800960..9805024-chr1:9806648..9811529,5	K562	blood:
2	chr1:9795106..9799024-chr1:9799834..9803861,3	K562	blood:

Variant related genes	Relation type
ENSG00000171603	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4988680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58978222	1.00[AMR][1000 genomes]
rs6664451	1.00[AMR][1000 genomes]
rs72855710	1.00[AMR][1000 genomes]
rs72855712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855717	1.00[AMR][1000 genomes]
rs72855750	1.00[AMR][1000 genomes]
rs72871215	1.00[AMR][1000 genomes]
rs72871220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871223	0.91[AFR][1000 genomes];1.00[AMR][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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:9784200-9807400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
6	chr1:9786400-9814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:9786600-9804800	Strong transcription	Ovary	ovary
8	chr1:9786600-9806000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:9786600-9807000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:9786600-9807000	Strong transcription	HepG2	liver
11	chr1:9786600-9815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:9786800-9806200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr1:9786800-9807200	Strong transcription	Placenta	Placenta
14	chr1:9786800-9814000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:9787000-9805600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:9787000-9807000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr1:9787000-9813000	Weak transcription	Fetal Heart	heart
18	chr1:9787200-9804800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:9787200-9806800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:9787200-9807200	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:9787400-9806400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:9787400-9807000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:9787400-9807200	Strong transcription	Left Ventricle	heart
24	chr1:9787400-9807200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:9787400-9811800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:9787600-9807400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:9787600-9812000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:9787600-9813200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:9787600-9815200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:9788000-9807000	Strong transcription	NHEK	skin
31	chr1:9788200-9804800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:9788400-9807400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:9788400-9811800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:9789800-9815400	Strong transcription	Fetal Thymus	thymus
35	chr1:9789800-9815800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:9790600-9805000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:9790600-9815400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:9791600-9814200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:9791600-9816000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:9791800-9805000	Strong transcription	Fetal Intestine Large	intestine
41	chr1:9792000-9815600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:9792600-9811000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:9793000-9810000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:9793000-9811800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:9793400-9813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:9793800-9805000	Strong transcription	Brain Germinal Matrix	brain
47	chr1:9793800-9805600	Strong transcription	Lung	lung
48	chr1:9793800-9807200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:9793800-9815200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:9794000-9805200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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