Variant report

Variant	rs72827713
Chromosome Location	chr2:99380135-99380136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99373723..99375760-chr2:99377966..99380298,2	MCF-7	breast:
2	chr2:99352512..99355304-chr2:99377484..99380437,2	MCF-7	breast:
3	chr2:99379234..99380844-chr2:99381861..99384498,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10496330	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877905	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59313126	0.86[EUR][1000 genomes]
rs59989465	0.86[EUR][1000 genomes]
rs72825777	0.84[EUR][1000 genomes]
rs72825780	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825782	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825784	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825789	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825790	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825800	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825801	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72827704	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72827705	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72827707	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827708	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827717	0.93[EUR][1000 genomes]
rs72827722	0.93[EUR][1000 genomes]
rs72827724	0.93[EUR][1000 genomes]
rs72827727	0.86[EUR][1000 genomes]
rs72827729	0.86[EUR][1000 genomes]
rs72827731	0.86[EUR][1000 genomes]
rs72827732	0.86[EUR][1000 genomes]
rs72827733	0.86[EUR][1000 genomes]
rs72827734	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99372200-99380800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:99373800-99388000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:99374600-99383000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:99374600-99383200	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:99374800-99381000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:99374800-99381400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:99374800-99382000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:99375200-99381000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99375200-99386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99375200-99386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:99376800-99380600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:99376800-99382200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:99376800-99384600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:99377000-99381600	Enhancers	GM12878-XiMat	blood
15	chr2:99377000-99382200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:99377000-99382200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:99377000-99385000	Weak transcription	Spleen	Spleen
18	chr2:99377000-99386400	Weak transcription	Esophagus	oesophagus
19	chr2:99377400-99380600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:99377800-99383800	Weak transcription	HUVEC	blood vessel
21	chr2:99378400-99382600	Weak transcription	Pancreas	Pancrea
22	chr2:99378400-99383200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:99378400-99385000	Weak transcription	Lung	lung
24	chr2:99378400-99385000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:99378400-99389400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:99378600-99382200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:99378600-99382600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:99378800-99380200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:99378800-99380800	Genic enhancers	Fetal Thymus	thymus
30	chr2:99378800-99381800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:99378800-99382400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:99378800-99388200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:99379200-99382600	Weak transcription	Primary T cells from cord blood	blood
34	chr2:99379200-99388200	Weak transcription	Brain Substantia Nigra	brain
35	chr2:99379400-99380600	Weak transcription	Placenta	Placenta
36	chr2:99379400-99380800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:99379400-99381400	Weak transcription	Fetal Brain Female	brain
38	chr2:99379400-99382400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:99379400-99382600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:99379400-99385000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:99379400-99385200	Weak transcription	Fetal Brain Male	brain
42	chr2:99379400-99385200	Weak transcription	Right Atrium	heart
43	chr2:99379400-99386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:99379400-99388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:99379600-99382200	Enhancers	Primary B cells from cord blood	blood
46	chr2:99379800-99380600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:99379800-99382200	Weak transcription	HepG2	liver
48	chr2:99379800-99383200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:99379800-99384800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:99380000-99381400	Enhancers	Dnd41	blood

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