Variant report

Variant	rs72708088
Chromosome Location	chr1:161882189-161882190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161874595..161877086-chr1:161880690..161882422,2	K562	blood:
2	chr1:161879997..161882988-chr1:161887506..161891115,3	K562	blood:
3	chr1:161881420..161885079-chr1:161887506..161889889,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17452514	0.83[AMR][1000 genomes]
rs72704075	1.00[AFR][1000 genomes]
rs72706034	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72706039	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72706043	1.00[AFR][1000 genomes]
rs72706058	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72708099	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3440913	chr1:161864485-161897210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3353497	chr1:161864505-161897180	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:161859200-161885400	Weak transcription	Psoas Muscle	Psoas
4	chr1:161859400-161882600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:161859400-161882800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:161861400-161884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:161861400-161884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:161861400-161884400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:161861600-161882400	Weak transcription	Placenta	Placenta
10	chr1:161861600-161882400	Weak transcription	Dnd41	blood
11	chr1:161861600-161883400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:161861600-161883800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:161861600-161884000	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:161861600-161884000	Weak transcription	Left Ventricle	heart
15	chr1:161861600-161884000	Weak transcription	Pancreas	Pancrea
16	chr1:161861600-161884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:161861600-161891400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:161861800-161882400	Weak transcription	Liver	Liver
21	chr1:161861800-161883800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:161862000-161883400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:161874200-161884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:161874400-161884000	Weak transcription	NHEK	skin
25	chr1:161875000-161884000	Weak transcription	GM12878-XiMat	blood
26	chr1:161875200-161882400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:161875200-161884200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:161875600-161883000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:161875600-161888400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:161875800-161884000	Weak transcription	Gastric	stomach
31	chr1:161876800-161883400	Weak transcription	K562	blood
32	chr1:161877400-161884000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:161877400-161891400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:161878200-161888200	Weak transcription	Fetal Heart	heart
35	chr1:161878600-161884000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:161879200-161884400	Weak transcription	Thymus	Thymus
37	chr1:161879200-161884600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:161879200-161886000	Weak transcription	Brain Angular Gyrus	brain
39	chr1:161879200-161886800	Weak transcription	Esophagus	oesophagus
40	chr1:161879400-161883800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:161879400-161884000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:161879600-161884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:161879800-161884000	Weak transcription	Fetal Thymus	thymus
44	chr1:161880000-161890600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:161880000-161891600	Weak transcription	Fetal Stomach	stomach
46	chr1:161880200-161883400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:161880200-161884000	Weak transcription	Fetal Brain Female	brain
48	chr1:161880400-161883600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:161880400-161884800	Weak transcription	Fetal Lung	lung
50	chr1:161880400-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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