Variant report

Variant	rs6879919
Chromosome Location	chr5:118645920-118645921
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr5:118645920-118645964	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118603550..118606082-chr5:118645592..118647525,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL174P	TF binding region
ENSG00000145779	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10035514	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10053596	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs10063063	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032859	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504980	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17385858	1.00[CHB][hapmap]
rs2112323	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895188	1.00[CHB][hapmap]
rs6876958	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878373	0.80[CEU][hapmap]
rs888768	0.92[EUR][1000 genomes]
rs888771	0.80[CEU][hapmap]
rs888772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327095	1.00[CHB][hapmap]
rs9327097	1.00[CHB][hapmap]
rs9327098	1.00[CHB][hapmap]

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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:118639200-118657200	Weak transcription	Lung	lung
6	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
8	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
9	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:118641200-118649000	Weak transcription	NHLF	lung
15	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:118641800-118649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
18	chr5:118642000-118648800	Weak transcription	Hela-S3	cervix
19	chr5:118643800-118646200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr5:118644200-118646000	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:118644200-118646000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:118644200-118648800	Weak transcription	A549	lung
23	chr5:118644400-118646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:118644400-118649400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
26	chr5:118644800-118648800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:118645000-118646000	Flanking Active TSS	Thymus	Thymus
28	chr5:118645000-118646200	Enhancers	K562	blood
29	chr5:118645000-118649000	Weak transcription	Fetal Lung	lung
30	chr5:118645000-118650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:118645000-118651200	Weak transcription	NH-A	brain
32	chr5:118645200-118646000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:118645200-118649600	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:118645200-118649600	Weak transcription	Placenta	Placenta
35	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:118645400-118646000	Enhancers	Primary T cells from cord blood	blood
37	chr5:118645400-118646200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr5:118645400-118646200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118645400-118646400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:118645400-118646600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr5:118645400-118646800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:118645400-118647000	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr5:118645400-118647000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:118645400-118652000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr5:118645400-118652000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:118645600-118646000	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr5:118645600-118646400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:118645600-118647000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:118645600-118647000	Genic enhancers	Fetal Thymus	thymus
50	chr5:118645600-118648800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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