Variant report

Variant	rs6868149
Chromosome Location	chr5:112100555-112100556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11948681	1.00[EUR][1000 genomes]
rs11950732	1.00[EUR][1000 genomes]
rs11953322	1.00[EUR][1000 genomes]
rs11960216	0.88[ASN][1000 genomes]
rs17134945	0.96[ASN][1000 genomes]
rs17134960	0.91[ASN][1000 genomes]
rs2289485	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3887380	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60088629	1.00[EUR][1000 genomes]
rs62626346	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6867422	1.00[EUR][1000 genomes]
rs6876301	1.00[EUR][1000 genomes]
rs6888572	1.00[EUR][1000 genomes]
rs7719122	0.93[AFR][1000 genomes]
rs7723423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724741	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
2	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
3	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:112075400-112101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
11	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112084400-112103000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:112084600-112103200	Weak transcription	Psoas Muscle	Psoas
14	chr5:112084800-112101000	Weak transcription	Pancreas	Pancrea
15	chr5:112087600-112117600	Weak transcription	Gastric	stomach
16	chr5:112089800-112116600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:112093400-112102800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:112093400-112103200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:112093400-112103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:112093400-112103200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:112093400-112103400	Weak transcription	Thymus	Thymus
22	chr5:112093400-112103600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:112093400-112103800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:112093400-112103800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:112093400-112108600	Weak transcription	Brain Angular Gyrus	brain
26	chr5:112093400-112114800	Weak transcription	Brain Substantia Nigra	brain
27	chr5:112093400-112114800	Weak transcription	NHEK	skin
28	chr5:112093400-112116000	Weak transcription	HUVEC	blood vessel
29	chr5:112093400-112117400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:112093400-112128600	Weak transcription	Ovary	ovary
31	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:112093600-112103400	Weak transcription	Fetal Kidney	kidney
34	chr5:112093800-112102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:112094200-112102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:112094800-112101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:112095200-112122400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:112095400-112102800	Weak transcription	Fetal Intestine Small	intestine
41	chr5:112095600-112104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:112095600-112116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:112096200-112101000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:112096200-112101200	Weak transcription	Liver	Liver
45	chr5:112096200-112102000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:112096200-112102600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:112096200-112102600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:112096200-112102800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:112096200-112102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:112096200-112103400	Weak transcription	Fetal Muscle Leg	muscle

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