Variant report

Variant	rs6889411
Chromosome Location	chr5:75901159-75901160
allele	A/C
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	FOSL2	chr5:75900531-75901189	A549	lung:	n/a	chr5:75900849-75900858 chr5:75900849-75900859 chr5:75900849-75900859 chr5:75900847-75900858 chr5:75900849-75900859 chr5:75900849-75900859

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75899104..75902387-chr5:75903056..75906871,6	K562	blood:
2	chr5:75899087..75901579-chr5:75954997..75956885,2	K562	blood:

Variant related genes	Relation type
IQGAP2	TF binding region
ENSG00000249713	Chromatin interaction
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10044688	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs10064543	0.84[JPT][hapmap]
rs10065424	0.85[CHD][hapmap];0.94[JPT][hapmap]
rs10080190	0.87[JPT][hapmap]
rs10474482	0.83[ASN][1000 genomes]
rs10942784	0.90[CHD][hapmap];0.94[JPT][hapmap]
rs12513951	0.84[JPT][hapmap]
rs13355881	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2202113	0.84[JPT][hapmap]
rs2202114	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs3797380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704330	0.82[CHD][hapmap];0.94[JPT][hapmap]
rs4704332	0.89[JPT][hapmap]
rs4704333	0.85[CHD][hapmap];0.94[JPT][hapmap]
rs6453231	0.94[JPT][hapmap]
rs6869692	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7722711	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs905162	0.86[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	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv598681	chr5:75863987-75902533	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:75873600-75903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:75877000-75902800	Weak transcription	Adipose Nuclei	Adipose
4	chr5:75877400-75902800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:75879000-75913600	Weak transcription	Colonic Mucosa	Colon
6	chr5:75879000-75917600	Weak transcription	Fetal Thymus	thymus
7	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
8	chr5:75879200-75907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:75879200-75919000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:75879400-75903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:75882000-75901400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
14	chr5:75883400-75904200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:75884000-75903000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:75884000-75914600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:75884200-75902200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:75884400-75919200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:75884400-75919400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:75885400-75905000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr5:75886200-75902800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:75889400-75903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:75889400-75903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:75891000-75911800	Weak transcription	Thymus	Thymus
25	chr5:75891200-75909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:75891200-75911800	Strong transcription	Liver	Liver
27	chr5:75892000-75902400	Strong transcription	Primary B cells from cord blood	blood
28	chr5:75892000-75904000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:75892000-75910400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:75893400-75902000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:75893400-75903400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:75893400-75903400	Weak transcription	Spleen	Spleen
33	chr5:75893600-75902600	Weak transcription	Gastric	stomach
34	chr5:75893600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:75895200-75912800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:75896200-75901600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:75896800-75913800	Weak transcription	Pancreas	Pancrea
38	chr5:75897600-75902600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:75898000-75908800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:75898800-75902400	Weak transcription	GM12878-XiMat	blood
41	chr5:75898800-75902600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:75899200-75902400	Weak transcription	Placenta	Placenta
43	chr5:75899200-75902400	Weak transcription	NHLF	lung
44	chr5:75899200-75903400	Weak transcription	Esophagus	oesophagus
45	chr5:75899200-75904400	Weak transcription	K562	blood
46	chr5:75899400-75902400	Weak transcription	Fetal Stomach	stomach
47	chr5:75899400-75902600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:75899600-75901400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:75899600-75902400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:75899600-75902600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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