Variant report

Variant	rs2273599
Chromosome Location	chr14:67953995-67953996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67952500..67954302-chr14:67954353..67956306,2	K562	blood:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11847652	1.00[CEU][hapmap]
rs17184692	1.00[CEU][hapmap]
rs17836777	0.92[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4902473	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902474	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58299191	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67937400-67954800	Weak transcription	Gastric	stomach
4	chr14:67937400-67955000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:67937600-67955000	Weak transcription	Brain Anterior Caudate	brain
6	chr14:67942000-67955000	Weak transcription	Esophagus	oesophagus
7	chr14:67945400-67955000	Weak transcription	Small Intestine	intestine
8	chr14:67945600-67954600	Weak transcription	Colonic Mucosa	Colon
9	chr14:67945600-67954800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:67947000-67954000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
12	chr14:67947200-67954800	Strong transcription	Fetal Intestine Small	intestine
13	chr14:67947200-67955000	Weak transcription	Ovary	ovary
14	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
15	chr14:67949800-67958200	Weak transcription	Fetal Brain Male	brain
16	chr14:67950400-67954000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:67950400-67954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:67951600-67954000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:67951800-67954200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:67951800-67954800	Weak transcription	Stomach Mucosa	stomach
21	chr14:67952000-67954000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr14:67952000-67954800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr14:67952200-67954200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:67952200-67954200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:67952200-67954800	Enhancers	Right Ventricle	heart
26	chr14:67952200-67954800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr14:67952200-67955000	Enhancers	Psoas Muscle	Psoas
28	chr14:67952400-67954400	Genic enhancers	Spleen	Spleen
29	chr14:67952400-67954400	ZNF genes & repeats	GM12878-XiMat	blood
30	chr14:67952400-67954800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:67952400-67958600	Weak transcription	Fetal Brain Female	brain
32	chr14:67952600-67954000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:67952600-67954000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr14:67952600-67954000	ZNF genes & repeats	Fetal Thymus	thymus
35	chr14:67952600-67955000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:67952800-67954000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:67952800-67954000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:67952800-67954000	Weak transcription	Dnd41	blood
39	chr14:67952800-67954400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:67952800-67954600	Weak transcription	Adipose Nuclei	Adipose
41	chr14:67952800-67954800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:67952800-67955000	Weak transcription	Liver	Liver
43	chr14:67952800-67955000	Weak transcription	Placenta	Placenta
44	chr14:67952800-67955200	Weak transcription	Brain Substantia Nigra	brain
45	chr14:67952800-67957600	Weak transcription	Fetal Stomach	stomach
46	chr14:67953000-67954200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:67953000-67954600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:67953400-67954000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr14:67953400-67954000	Strong transcription	Lung	lung
50	chr14:67953400-67954600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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