Variant report

Variant	rs10138481
Chromosome Location	chr14:70109029-70109030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70077144..70079517-chr14:70106099..70109030,2	MCF-7	breast:
2	chr14:70093321..70095778-chr14:70107499..70109457,2	MCF-7	breast:
3	chr14:70095513..70097644-chr14:70108605..70110180,2	K562	blood:
4	chr14:70108653..70111894-chr14:70113537..70117255,5	K562	blood:
5	chr14:70107632..70111411-chr14:70113640..70118051,5	MCF-7	breast:
6	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10149246	0.80[ASW][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs10498530	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1275747	0.81[YRI][hapmap]
rs1275748	0.86[YRI][hapmap]
rs1275749	0.80[YRI][hapmap]
rs1763223	0.80[YRI][hapmap]
rs28649375	0.88[AFR][1000 genomes]
rs3784142	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56153412	0.80[AFR][1000 genomes]
rs56675062	0.88[EUR][1000 genomes]
rs60314170	0.90[AFR][1000 genomes]
rs74060224	1.00[ASN][1000 genomes]
rs74060242	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74060269	0.86[AFR][1000 genomes]
rs762049	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105000-70113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70105200-70109600	Weak transcription	Hela-S3	cervix
4	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:70105400-70109800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:70105400-70114000	Weak transcription	Fetal Stomach	stomach
7	chr14:70105600-70109400	Weak transcription	Right Ventricle	heart
8	chr14:70105600-70111400	Weak transcription	Fetal Lung	lung
9	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:70105800-70109400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:70105800-70109600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:70105800-70109600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:70105800-70109600	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:70105800-70110000	Weak transcription	NH-A	brain
15	chr14:70105800-70110000	Weak transcription	NHLF	lung
16	chr14:70105800-70110200	Weak transcription	Aorta	Aorta
17	chr14:70105800-70113800	Weak transcription	Osteobl	bone
18	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
19	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70106200-70113200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr14:70106400-70109400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:70106400-70109600	Weak transcription	Adipose Nuclei	Adipose
23	chr14:70106400-70109600	Weak transcription	Liver	Liver
24	chr14:70106400-70109600	Weak transcription	HMEC	breast
25	chr14:70106400-70109800	Weak transcription	Colonic Mucosa	Colon
26	chr14:70106400-70109800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:70106400-70109800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:70106600-70109400	Weak transcription	Gastric	stomach
29	chr14:70106600-70109400	Weak transcription	Lung	lung
30	chr14:70106600-70109400	Weak transcription	Pancreas	Pancrea
31	chr14:70106600-70109400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:70106600-70109600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:70106600-70109600	Weak transcription	Esophagus	oesophagus
34	chr14:70106600-70109600	Weak transcription	Psoas Muscle	Psoas
35	chr14:70106600-70109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:70106600-70110200	Weak transcription	Brain Substantia Nigra	brain
37	chr14:70106600-70110200	Weak transcription	Spleen	Spleen
38	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
39	chr14:70106800-70109400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:70106800-70109400	Weak transcription	Small Intestine	intestine
41	chr14:70107000-70109600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:70107000-70109600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:70107200-70109200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr14:70107200-70109200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:70107200-70109400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:70107200-70109600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:70107200-70109800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr14:70107200-70110000	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr14:70107200-70110200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr14:70107400-70109400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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