Variant report

Variant	rs10176919
Chromosome Location	chr2:208879603-208879604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208877938..208880285-chr2:208888473..208891306,2	MCF-7	breast:
2	chr2:208877025..208882031-chr2:208889273..208892174,4	K562	blood:

Variant related genes	Relation type
ENSG00000178385	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10189041	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195504	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10200892	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209093	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10497889	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11692908	0.81[YRI][hapmap]
rs11895970	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11896789	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13392361	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs13405165	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs13418213	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13422017	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13423906	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16840280	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2362781	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs59206831	0.89[AFR][1000 genomes]
rs59524824	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435400	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs6707468	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6711353	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs6715281	0.93[AFR][1000 genomes]
rs73064902	0.95[AFR][1000 genomes]
rs73066707	0.95[AFR][1000 genomes]
rs73066710	0.93[AFR][1000 genomes]
rs73066711	0.99[AFR][1000 genomes];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	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
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
4	chr2:208865200-208889000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:208866200-208882400	Weak transcription	Aorta	Aorta
6	chr2:208866400-208882000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:208866400-208888200	Weak transcription	Ovary	ovary
8	chr2:208866600-208888200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:208866600-208889000	Weak transcription	Fetal Stomach	stomach
10	chr2:208866600-208889600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:208866800-208882400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:208866800-208884400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:208866800-208885000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:208866800-208887200	Weak transcription	Fetal Brain Female	brain
15	chr2:208866800-208888200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:208866800-208889400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:208867000-208888200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:208867400-208882000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:208867400-208887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:208867400-208889000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:208867400-208889200	Weak transcription	Primary T cells from cord blood	blood
22	chr2:208867600-208881000	Weak transcription	Gastric	stomach
23	chr2:208871800-208889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:208871800-208889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:208872400-208888200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:208875600-208889000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:208876800-208880000	Enhancers	Fetal Intestine Large	intestine
28	chr2:208876800-208880800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:208877000-208880000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:208877000-208881400	Enhancers	Fetal Intestine Small	intestine
31	chr2:208877200-208880000	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:208877600-208882400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:208877600-208888200	Weak transcription	Psoas Muscle	Psoas
34	chr2:208877800-208880600	Enhancers	HepG2	liver
35	chr2:208877800-208882600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:208877800-208888600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:208878400-208880000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:208878600-208887200	Weak transcription	Right Ventricle	heart
39	chr2:208878600-208889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:208878800-208880400	Enhancers	Hela-S3	cervix
41	chr2:208878800-208882400	Weak transcription	Right Atrium	heart
42	chr2:208878800-208887200	Weak transcription	Brain Angular Gyrus	brain
43	chr2:208878800-208888200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:208878800-208889000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:208879000-208880400	Enhancers	A549	lung
46	chr2:208879000-208881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:208879000-208882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:208879000-208882400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:208879000-208882400	Weak transcription	Spleen	Spleen
50	chr2:208879000-208884600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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