Variant report

Variant	rs4143922
Chromosome Location	chr14:69561700-69561701
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	chr14:69445487..69447577-chr14:69560002..69561748,2	K562	blood:
2	chr14:69558940..69562138-chr14:69562200..69566674,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10130013	0.83[CHD][hapmap]
rs10132533	0.88[CHB][hapmap]
rs10139274	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10139873	0.83[CHD][hapmap]
rs10498528	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11158787	0.83[CHD][hapmap]
rs11158795	0.88[CHB][hapmap]
rs11158798	0.88[CHB][hapmap]
rs11628126	0.83[CHD][hapmap]
rs12435594	0.83[CHD][hapmap]
rs12879406	0.88[CHB][hapmap]
rs12886715	1.00[CHB][hapmap]
rs12889849	0.88[CHB][hapmap]
rs17106693	1.00[AMR][1000 genomes]
rs17106717	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17106754	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs17106800	1.00[AMR][1000 genomes]
rs17106817	0.86[CHB][hapmap]
rs1890944	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2056153	0.83[CHD][hapmap]
rs28436153	0.89[ASN][1000 genomes]
rs28613298	0.83[CHD][hapmap]
rs3211166	0.88[CHB][hapmap]
rs3742899	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs3742900	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4243633	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4899279	1.00[AMR][1000 genomes]
rs4899283	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4899290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4902691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4902698	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs4902704	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56788993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57422627	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57674546	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6573869	0.88[CHB][hapmap]
rs7151331	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7494646	1.00[AMR][1000 genomes]
rs8007859	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs8008184	0.83[CHD][hapmap]
rs8008735	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs8008829	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
4	chr14:69546000-69563200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
6	chr14:69548000-69563000	Strong transcription	Fetal Thymus	thymus
7	chr14:69548000-69563600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:69548200-69567400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:69550000-69568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:69558200-69563600	Weak transcription	Fetal Brain Male	brain
11	chr14:69558600-69561800	Weak transcription	Fetal Kidney	kidney
12	chr14:69558600-69564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:69558600-69569600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:69558600-69570400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:69558600-69572000	Weak transcription	Brain Germinal Matrix	brain
16	chr14:69558600-69578600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:69558800-69562200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:69558800-69564400	Weak transcription	Thymus	Thymus
19	chr14:69558800-69565200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:69558800-69567800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:69558800-69569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:69558800-69569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:69558800-69570000	Weak transcription	Fetal Brain Female	brain
24	chr14:69558800-69572000	Weak transcription	Esophagus	oesophagus
25	chr14:69558800-69572000	Weak transcription	Spleen	Spleen
26	chr14:69558800-69581600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:69558800-69582000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:69558800-69595800	Weak transcription	Hela-S3	cervix
29	chr14:69559000-69561800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:69559000-69564200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:69559000-69566200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:69559000-69569600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:69559000-69583800	Weak transcription	Colonic Mucosa	Colon
34	chr14:69559200-69562200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:69559200-69562400	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:69559200-69567800	Weak transcription	Liver	Liver
37	chr14:69559200-69569400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:69559400-69561800	Enhancers	NHLF	lung
39	chr14:69559400-69564000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:69559600-69562200	Enhancers	Osteobl	bone
41	chr14:69559600-69564000	Enhancers	HepG2	liver
42	chr14:69559800-69561800	Enhancers	HMEC	breast
43	chr14:69559800-69561800	Enhancers	HUVEC	blood vessel
44	chr14:69559800-69562000	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:69559800-69564600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:69560000-69561800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:69560000-69561800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:69560000-69562400	Enhancers	NH-A	brain
49	chr14:69560000-69564000	Enhancers	Brain Hippocampus Middle	brain
50	chr14:69560000-69565200	Strong transcription	Primary B cells from peripheral blood	blood

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