Variant report

Variant	rs72884632
Chromosome Location	chr2:47631791-47631792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47628634..47630771-chr2:47631701..47633854,2	K562	blood:
2	chr2:47592763..47599978-chr2:47628456..47631890,7	K562	blood:
3	chr2:47630652..47632371-chr2:47633998..47636447,2	MCF-7	breast:
4	chr2:47350687..47353062-chr2:47631360..47633545,2	K562	blood:
5	chr2:47401987..47404848-chr2:47628320..47632624,5	MCF-7	breast:
6	chr2:47570416..47573787-chr2:47628581..47633320,5	MCF-7	breast:
7	chr2:47595432..47597958-chr2:47630032..47632167,2	K562	blood:
8	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
9	chr2:47595241..47598489-chr2:47628033..47632018,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095002	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000119888	Chromatin interaction
ENSG00000234690	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17036586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17039236	1.00[AMR][1000 genomes]
rs17217849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17217961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17218648	1.00[AMR][1000 genomes]
rs17224122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224724	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224815	1.00[AMR][1000 genomes]
rs1800151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55815447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55905016	1.00[AMR][1000 genomes]
rs56076616	1.00[AMR][1000 genomes]
rs56958162	1.00[AMR][1000 genomes]
rs56983268	1.00[AMR][1000 genomes]
rs57972954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012164	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58080795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974084	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60121180	1.00[AMR][1000 genomes]
rs60512750	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61282650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61635665	1.00[AMR][1000 genomes]
rs72882725	1.00[AMR][1000 genomes]
rs72882752	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882786	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882796	1.00[AMR][1000 genomes]
rs72882802	1.00[AMR][1000 genomes]
rs72884625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884676	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886358	1.00[AMR][1000 genomes]
rs72888237	1.00[AMR][1000 genomes]
rs72888238	1.00[AMR][1000 genomes]
rs72888263	1.00[AMR][1000 genomes]
rs73927791	0.86[AFR][1000 genomes]
rs73927793	0.97[AFR][1000 genomes]
rs73927801	1.00[AMR][1000 genomes]
rs73927802	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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 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	chr2:47629200-47632400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:47629400-47632200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:47629600-47632000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:47629800-47632000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:47629800-47632400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:47630000-47632000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:47630600-47631800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr2:47630600-47631800	Flanking Active TSS	Thymus	Thymus
9	chr2:47630800-47631800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:47630800-47631800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:47630800-47631800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr2:47630800-47631800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:47630800-47631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:47630800-47631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:47630800-47631800	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr2:47630800-47631800	Flanking Active TSS	Pancreas	Pancrea
17	chr2:47630800-47631800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:47631000-47631800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr2:47631000-47631800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr2:47631000-47631800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr2:47631000-47631800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:47631000-47631800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:47631000-47631800	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr2:47631000-47631800	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr2:47631000-47631800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:47631000-47631800	Flanking Active TSS	Fetal Brain Male	brain
27	chr2:47631000-47631800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr2:47631000-47631800	Flanking Active TSS	Fetal Lung	lung
29	chr2:47631000-47631800	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr2:47631000-47631800	Flanking Active TSS	Fetal Thymus	thymus
31	chr2:47631000-47631800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:47631000-47631800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:47631000-47631800	Enhancers	Spleen	Spleen
34	chr2:47631000-47631800	Transcr. at gene 5' and 3'	Dnd41	blood
35	chr2:47631000-47631800	Flanking Active TSS	HMEC	breast
36	chr2:47631000-47631800	Flanking Active TSS	HUVEC	blood vessel
37	chr2:47631000-47631800	Flanking Active TSS	NH-A	brain
38	chr2:47631000-47631800	Flanking Active TSS	NHLF	lung
39	chr2:47631000-47631800	Flanking Active TSS	Osteobl	bone
40	chr2:47631200-47631800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:47631200-47631800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:47631200-47631800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:47631200-47631800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:47631200-47631800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:47631200-47631800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:47631200-47631800	Flanking Active TSS	Fetal Brain Female	brain
47	chr2:47631200-47631800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr2:47631200-47631800	Flanking Active TSS	Fetal Kidney	kidney
49	chr2:47631200-47631800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr2:47631200-47631800	Enhancers	Small Intestine	intestine

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