Variant report

Variant	rs10135124
Chromosome Location	chr14:56142921-56142922
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	chr14:56135769..56139247-chr14:56140208..56143081,3	K562	blood:
2	chr1:144531660..144535087-chr14:56140285..56143287,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10083493	1.00[YRI][hapmap]
rs10083499	0.88[YRI][hapmap]
rs10129537	1.00[AMR][1000 genomes]
rs10133962	1.00[YRI][hapmap]
rs10137340	0.87[YRI][hapmap]
rs10142497	1.00[YRI][hapmap]
rs10142757	1.00[YRI][hapmap]
rs10142869	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10143002	0.83[YRI][hapmap]
rs10148122	0.81[AFR][1000 genomes]
rs10148188	1.00[AMR][1000 genomes]
rs10150498	0.88[YRI][hapmap]
rs10483643	1.00[YRI][hapmap]
rs11546	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs13379264	1.00[AMR][1000 genomes]
rs17128607	1.00[EUR][1000 genomes]
rs17746033	1.00[YRI][hapmap]
rs17747083	1.00[YRI][hapmap]
rs2274075	1.00[YRI][hapmap]
rs2296181	0.88[YRI][hapmap]
rs28366673	1.00[AMR][1000 genomes]
rs28373835	1.00[AMR][1000 genomes]
rs28505708	1.00[EUR][1000 genomes]
rs28625011	1.00[EUR][1000 genomes]
rs55996108	1.00[EUR][1000 genomes]
rs59412666	1.00[EUR][1000 genomes]
rs59453610	1.00[EUR][1000 genomes]
rs60593092	1.00[EUR][1000 genomes]
rs61376005	1.00[EUR][1000 genomes]
rs73289560	1.00[EUR][1000 genomes]
rs74051604	1.00[EUR][1000 genomes]
rs74051605	1.00[EUR][1000 genomes]
rs74051606	1.00[EUR][1000 genomes]
rs74051613	1.00[EUR][1000 genomes]
rs8009608	1.00[YRI][hapmap]
rs9323289	0.88[YRI][hapmap]
rs9972177	0.88[YRI][hapmap]
rs9972178	1.00[YRI][hapmap]
rs9972180	1.00[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56088400-56153200	Weak transcription	Gastric	stomach
4	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:56102400-56145200	Weak transcription	Lung	lung
8	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
9	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:56122000-56145400	Weak transcription	Pancreas	Pancrea
16	chr14:56122400-56145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:56122400-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
19	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
20	chr14:56125000-56144600	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:56128200-56145200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:56128200-56149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:56129200-56143800	Weak transcription	Fetal Intestine Small	intestine
24	chr14:56129200-56144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:56129200-56145200	Weak transcription	Fetal Stomach	stomach
26	chr14:56129800-56145000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:56129800-56145200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:56129800-56145200	Weak transcription	Spleen	Spleen
29	chr14:56129800-56152000	Weak transcription	Aorta	Aorta
30	chr14:56130400-56145200	Weak transcription	Ovary	ovary
31	chr14:56131400-56145200	Weak transcription	Fetal Brain Male	brain
32	chr14:56131400-56145200	Weak transcription	Thymus	Thymus
33	chr14:56133000-56145200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:56133400-56144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:56133400-56145200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:56133400-56153400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:56134000-56143600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:56134000-56155000	Strong transcription	HSMM	muscle
39	chr14:56134200-56153600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:56134600-56154200	Strong transcription	Liver	Liver
41	chr14:56134800-56145000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:56134800-56148200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:56135000-56153400	Strong transcription	Placenta	Placenta
44	chr14:56135200-56152800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:56135200-56153600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:56135600-56145400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:56136600-56154200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:56136800-56150000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:56136800-56153800	Strong transcription	Dnd41	blood
50	chr14:56136800-56154200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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