Variant report

Variant	rs943123
Chromosome Location	chr10:6184862-6184863
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
2	chr10:6182309..6185774-chr10:6185942..6188983,5	MCF-7	breast:
3	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
4	chr10:6150598..6153044-chr10:6184117..6186836,2	K562	blood:
5	chr10:6182985..6185643-chr10:6203385..6205220,2	K562	blood:
6	chr10:6130589..6132639-chr10:6184439..6189476,5	K562	blood:
7	chr10:5930398..5933295-chr10:6184026..6187985,3	K562	blood:
8	chr10:6180971..6185195-chr10:6203384..6207419,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134452	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10795823	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11256269	1.00[AMR][1000 genomes]
rs12250725	1.00[AMR][1000 genomes]
rs12260184	1.00[AMR][1000 genomes]
rs12261085	1.00[AMR][1000 genomes]
rs12261535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12722641	1.00[AMR][1000 genomes]
rs12722663	1.00[AMR][1000 genomes]
rs12722667	1.00[AMR][1000 genomes]
rs12722670	1.00[AMR][1000 genomes]
rs12722674	1.00[AMR][1000 genomes]
rs12722698	1.00[AMR][1000 genomes]
rs4509667	1.00[AMR][1000 genomes]
rs4749956	1.00[AMR][1000 genomes]
rs4749964	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4749993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60269484	1.00[AMR][1000 genomes]
rs6602367	1.00[AMR][1000 genomes]
rs7897471	1.00[AMR][1000 genomes]
rs7901642	1.00[AMR][1000 genomes]
rs7907241	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7910558	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
6	nsv894816	chr10:6173416-6190343	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv437656	chr10:6183805-6189362	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6176600-6185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:6182000-6185400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:6182600-6185000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr10:6182800-6186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:6183000-6185000	Weak transcription	Primary B cells from cord blood	blood
6	chr10:6183000-6185200	Weak transcription	Pancreas	Pancrea
7	chr10:6183000-6185400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:6183000-6185800	Weak transcription	Primary T cells from cord blood	blood
9	chr10:6183000-6186000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:6183000-6186200	Weak transcription	Brain Angular Gyrus	brain
11	chr10:6183000-6186200	Weak transcription	HUVEC	blood vessel
12	chr10:6183200-6185600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr10:6183200-6185600	Weak transcription	Fetal Thymus	thymus
14	chr10:6183200-6185600	Weak transcription	Dnd41	blood
15	chr10:6183200-6185800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:6183400-6185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:6183600-6185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:6183600-6185200	Weak transcription	Spleen	Spleen
19	chr10:6183600-6185800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:6183600-6186000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:6183600-6186200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr10:6183600-6186200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:6183800-6185200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr10:6183800-6185800	Weak transcription	Ovary	ovary
25	chr10:6183800-6186200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:6183800-6186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:6183800-6186200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr10:6183800-6186200	Weak transcription	Right Atrium	heart
29	chr10:6183800-6186400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:6183800-6186400	Weak transcription	Esophagus	oesophagus
31	chr10:6183800-6186400	Weak transcription	HMEC	breast
32	chr10:6184000-6185000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr10:6184000-6185200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:6184000-6185200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:6184000-6185200	Enhancers	NH-A	brain
36	chr10:6184000-6185200	Enhancers	Osteobl	bone
37	chr10:6184000-6185400	Enhancers	NHDF-Ad	bronchial
38	chr10:6184000-6185600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:6184000-6185600	Enhancers	NHLF	lung
40	chr10:6184000-6185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr10:6184000-6185800	Weak transcription	Colonic Mucosa	Colon
42	chr10:6184000-6185800	Weak transcription	Hela-S3	cervix
43	chr10:6184000-6186000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:6184000-6186000	Enhancers	Adipose Nuclei	Adipose
45	chr10:6184000-6186000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:6184000-6186000	Weak transcription	A549	lung
47	chr10:6184000-6186200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr10:6184000-6186200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:6184000-6186200	Weak transcription	Aorta	Aorta
50	chr10:6184000-6186200	Weak transcription	Right Ventricle	heart

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