Variant report

Variant	rs41268888
Chromosome Location	chr6:31558978-31558979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31513116..31516827-chr6:31558104..31561639,4	K562	blood:
2	chr6:31557562..31560415-chr6:31563588..31566360,2	K562	blood:
3	chr6:31459878..31461795-chr6:31557754..31559945,2	K562	blood:
4	chr6:31553044..31555571-chr6:31558809..31560803,3	K562	blood:
5	chr6:31508674..31511208-chr6:31557011..31559303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234006	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204482	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2857599	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2857708	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41268884	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41268892	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4388309	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
4	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
5	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
6	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
8	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
10	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
12	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
13	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
14	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
15	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31550000-31583200	Weak transcription	Right Atrium	heart
2	chr6:31550800-31560400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:31554800-31560400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:31556000-31560800	Weak transcription	Dnd41	blood
5	chr6:31556200-31560200	Weak transcription	Thymus	Thymus
6	chr6:31556200-31560600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:31556200-31560600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:31556600-31560200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:31557000-31560400	Weak transcription	Gastric	stomach
10	chr6:31557200-31559200	Weak transcription	Fetal Thymus	thymus
11	chr6:31557400-31560200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:31557400-31560200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:31557600-31559400	Weak transcription	GM12878-XiMat	blood
14	chr6:31557600-31560000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:31557600-31560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:31557600-31560200	Weak transcription	K562	blood
17	chr6:31557600-31566200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:31557800-31559000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:31557800-31559800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:31557800-31560200	Weak transcription	Primary T cells from cord blood	blood
21	chr6:31557800-31560200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:31557800-31560400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:31557800-31560400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:31557800-31560400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:31558000-31559000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:31558000-31559600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:31558000-31559800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:31558000-31560200	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:31558000-31560200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:31558000-31560200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:31558000-31560200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:31558000-31560400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr6:31558000-31560400	Weak transcription	Spleen	Spleen
34	chr6:31558600-31559400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:31558600-31560000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:31558600-31560200	Enhancers	Primary B cells from cord blood	blood
37	chr6:31558800-31559800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr6:31558800-31560400	Weak transcription	Monocytes-CD14+_RO01746	blood

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