Variant report

Variant	rs72941221
Chromosome Location	chr2:97307808-97307809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10167376	1.00[AMR][1000 genomes]
rs10167528	0.94[AFR][1000 genomes]
rs10194350	1.00[AMR][1000 genomes]
rs10205661	1.00[AMR][1000 genomes]
rs10208112	1.00[AMR][1000 genomes]
rs13405293	1.00[AMR][1000 genomes]
rs13419720	1.00[AMR][1000 genomes]
rs13422315	1.00[AMR][1000 genomes]
rs13422420	1.00[AMR][1000 genomes]
rs28438599	1.00[AMR][1000 genomes]
rs72941290	1.00[AMR][1000 genomes]
rs72942905	1.00[AMR][1000 genomes]
rs7585764	1.00[AMR][1000 genomes]
rs7599851	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97304400-97308400	Weak transcription	Gastric	stomach
2	chr2:97304600-97308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:97304600-97308200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:97304600-97308200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:97304600-97308200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:97304600-97308200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:97304600-97308200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:97304600-97308200	Weak transcription	Fetal Heart	heart
9	chr2:97304600-97308200	Weak transcription	Fetal Intestine Large	intestine
10	chr2:97304600-97308200	Weak transcription	NH-A	brain
11	chr2:97304600-97308200	Weak transcription	NHLF	lung
12	chr2:97304600-97308200	Weak transcription	Osteobl	bone
13	chr2:97304600-97308400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:97304600-97308400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:97304600-97308400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:97304600-97308400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:97304600-97308400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:97304600-97308400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:97304600-97308400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:97304600-97308400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:97304600-97308400	Weak transcription	Lung	lung
22	chr2:97304600-97308400	Weak transcription	Ovary	ovary
23	chr2:97304600-97308400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:97304600-97308400	Weak transcription	Right Atrium	heart
25	chr2:97304600-97308400	Weak transcription	HMEC	breast
26	chr2:97304600-97308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:97304600-97308600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:97304600-97308600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:97304800-97308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:97304800-97308200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:97304800-97308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97304800-97308200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:97304800-97308400	Weak transcription	Adipose Nuclei	Adipose
34	chr2:97304800-97308400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:97304800-97308400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:97304800-97308400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:97304800-97308400	Weak transcription	Left Ventricle	heart
38	chr2:97304800-97308400	Weak transcription	Pancreas	Pancrea
39	chr2:97304800-97308400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:97304800-97308400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:97307600-97308200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:97307600-97308400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:97307800-97308200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:97307800-97308200	Weak transcription	Fetal Kidney	kidney
45	chr2:97307800-97308400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:97307800-97308400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:97307800-97308400	Enhancers	Fetal Intestine Small	intestine
48	chr2:97307800-97308800	Enhancers	Fetal Brain Male	brain

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