Variant report

Variant	rs41294171
Chromosome Location	chr10:6005756-6005757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6000236..6003390-chr10:6003998..6007470,4	K562	blood:
2	chr10:6003571..6011080-chr10:6014794..6021269,11	K562	blood:
3	chr10:5999303..6003344-chr10:6003662..6007961,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134470	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11574672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12412401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41294187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294193	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294197	1.00[ASN][1000 genomes]
rs41294199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv519436	chr10:5997820-6008613	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv975792	chr10:5998348-6008505	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
5	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
6	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
7	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
8	chr10:5988600-6011800	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:5993600-6013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:5994000-6011000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr10:5994000-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:5994200-6012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:5994200-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:5995400-6012400	Weak transcription	Small Intestine	intestine
15	chr10:5997600-6007600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:5998200-6006400	Strong transcription	Liver	Liver
17	chr10:5999400-6017600	Weak transcription	Primary B cells from cord blood	blood
18	chr10:5999800-6005800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:5999800-6008400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:5999800-6011000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:6000000-6008600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr10:6000000-6008600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr10:6000200-6010800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:6000800-6005800	Strong transcription	Adipose Nuclei	Adipose
25	chr10:6000800-6005800	Strong transcription	Colonic Mucosa	Colon
26	chr10:6000800-6006800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr10:6000800-6006800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:6001000-6017400	Weak transcription	NHLF	lung
29	chr10:6001200-6006000	Strong transcription	Gastric	stomach
30	chr10:6001200-6006000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:6001200-6007400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:6001200-6008200	Strong transcription	Fetal Intestine Small	intestine
33	chr10:6001200-6008600	Strong transcription	Fetal Stomach	stomach
34	chr10:6001400-6005800	Strong transcription	Esophagus	oesophagus
35	chr10:6001800-6007000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr10:6002400-6017800	Weak transcription	Placenta	Placenta
37	chr10:6002600-6006400	Weak transcription	Stomach Mucosa	stomach
38	chr10:6002600-6006800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:6002800-6010800	Weak transcription	Right Atrium	heart
40	chr10:6002800-6010800	Weak transcription	K562	blood
41	chr10:6002800-6012400	Weak transcription	Hela-S3	cervix
42	chr10:6002800-6013000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:6003800-6005800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:6004000-6006200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:6004000-6008000	Weak transcription	GM12878-XiMat	blood
46	chr10:6004000-6008200	Strong transcription	Lung	lung
47	chr10:6004000-6008200	Strong transcription	Spleen	Spleen
48	chr10:6004200-6013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:6004600-6005800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr10:6004600-6007600	Strong transcription	Right Ventricle	heart

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