Variant report

Variant	rs6723220
Chromosome Location	chr2:208766048-208766049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16840140	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745049	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983681	1.00[AMR][1000 genomes]
rs7609299	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208693600-208772400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:208732000-208790400	Weak transcription	Fetal Thymus	thymus
3	chr2:208745000-208783600	Weak transcription	Thymus	Thymus
4	chr2:208753000-208800000	Weak transcription	Psoas Muscle	Psoas
5	chr2:208757800-208791200	Weak transcription	Right Ventricle	heart
6	chr2:208758000-208777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:208758200-208766200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:208758400-208772600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:208758400-208776000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:208758400-208776600	Weak transcription	Fetal Heart	heart
11	chr2:208758400-208792800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:208758800-208766600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:208759400-208790000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:208760000-208777600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:208760400-208766800	Weak transcription	Fetal Brain Female	brain
16	chr2:208760400-208767600	Weak transcription	Small Intestine	intestine
17	chr2:208760800-208767400	Strong transcription	Primary B cells from cord blood	blood
18	chr2:208761200-208776200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:208761600-208766200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:208761800-208767000	Strong transcription	Primary T cells from cord blood	blood
21	chr2:208762000-208767200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:208762200-208766800	Strong transcription	Aorta	Aorta
23	chr2:208762400-208767000	Weak transcription	Placenta	Placenta
24	chr2:208762400-208791000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:208762600-208804000	Weak transcription	Gastric	stomach
26	chr2:208762800-208766800	Weak transcription	Stomach Mucosa	stomach
27	chr2:208762800-208768800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:208762800-208774800	Weak transcription	Spleen	Spleen
29	chr2:208762800-208783800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:208763000-208769200	Weak transcription	Fetal Kidney	kidney
31	chr2:208763000-208770200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:208763000-208770400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:208763000-208793600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:208763200-208766600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:208763200-208766800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:208763200-208767200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:208763200-208767200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:208763200-208769000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:208763200-208769200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:208763200-208770400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:208763200-208776600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:208763400-208766600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:208763400-208767000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:208763400-208770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:208763400-208770400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:208763400-208790800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:208763600-208766800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:208763600-208766800	Weak transcription	Ovary	ovary
49	chr2:208763800-208767200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:208763800-208767200	Strong transcription	Monocytes-CD14+_RO01746	blood

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