Variant report

Variant	rs72871220
Chromosome Location	chr1:9791546-9791547
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9787700..9789917-chr1:9790535..9793046,2	K562	blood:
2	chr1:9780672..9783300-chr1:9789920..9792123,3	K562	blood:
3	chr1:9776041..9778446-chr1:9788849..9791675,3	K562	blood:
4	chr1:9790874..9793270-chr1:9967778..9969493,2	K562	blood:

Variant related genes	Relation type
ENSG00000171608	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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58978222	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664451	1.00[AMR][1000 genomes]
rs72855710	1.00[AMR][1000 genomes]
rs72855712	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855750	1.00[AMR][1000 genomes]
rs72871215	1.00[AMR][1000 genomes]
rs72871223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871231	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:125 , 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	chr1:9778400-9793400	Weak transcription	Fetal Kidney	kidney
3	chr1:9780600-9792600	Strong transcription	Dnd41	blood
4	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr1:9781600-9800600	Weak transcription	Fetal Brain Male	brain
6	chr1:9781800-9793600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:9782200-9792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:9783800-9799600	Strong transcription	Fetal Brain Female	brain
9	chr1:9784000-9793400	Strong transcription	Brain Germinal Matrix	brain
10	chr1:9784000-9797200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:9784200-9792600	Strong transcription	Fetal Stomach	stomach
13	chr1:9784200-9796800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:9784200-9807400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
16	chr1:9785200-9792200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:9786400-9792600	Strong transcription	GM12878-XiMat	blood
18	chr1:9786400-9792800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:9786400-9814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:9786600-9793200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:9786600-9793400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:9786600-9798000	Strong transcription	Adipose Nuclei	Adipose
23	chr1:9786600-9802200	Strong transcription	Esophagus	oesophagus
24	chr1:9786600-9804800	Strong transcription	Ovary	ovary
25	chr1:9786600-9806000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:9786600-9807000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:9786600-9807000	Strong transcription	HepG2	liver
28	chr1:9786600-9815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:9786800-9793400	Strong transcription	Lung	lung
30	chr1:9786800-9793800	Strong transcription	NH-A	brain
31	chr1:9786800-9796000	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr1:9786800-9802600	Strong transcription	Osteobl	bone
33	chr1:9786800-9806200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:9786800-9807200	Strong transcription	Placenta	Placenta
35	chr1:9786800-9814000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:9787000-9792800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:9787000-9793400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:9787000-9798000	Strong transcription	Colonic Mucosa	Colon
39	chr1:9787000-9801600	Strong transcription	Gastric	stomach
40	chr1:9787000-9801600	Strong transcription	Right Ventricle	heart
41	chr1:9787000-9805600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:9787000-9807000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:9787000-9813000	Weak transcription	Fetal Heart	heart
44	chr1:9787200-9791800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:9787200-9802400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:9787200-9804800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:9787200-9806800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:9787200-9807200	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:9787400-9793400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:9787400-9797200	Strong transcription	Brain Anterior Caudate	brain

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