Variant report

Variant	rs1187120
Chromosome Location	chr6:34150627-34150628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34149535..34152923-chr6:34209211..34212151,3	K562	blood:
2	chr6:34146922..34150986-chr6:34202891..34205942,5	K562	blood:
3	chr6:34149447..34151035-chr6:34209957..34212126,2	K562	blood:
4	chr6:34150462..34152968-chr6:34158772..34160911,3	K562	blood:
5	chr6:34144149..34151334-chr6:34201235..34205815,9	K562	blood:
6	chr6:34148396..34153571-chr6:34214119..34217193,5	K562	blood:

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1150782	1.00[AMR][1000 genomes]
rs1187127	1.00[AMR][1000 genomes]
rs1187128	1.00[AMR][1000 genomes]
rs1759635	1.00[AMR][1000 genomes]
rs1759638	1.00[AMR][1000 genomes]
rs1776893	1.00[AMR][1000 genomes]
rs1873245	1.00[AMR][1000 genomes]
rs1963283	1.00[AMR][1000 genomes]
rs2451336	1.00[AMR][1000 genomes]
rs2499723	1.00[AMR][1000 genomes]
rs2797965	1.00[AMR][1000 genomes]
rs6899326	1.00[AMR][1000 genomes]
rs902194	1.00[AMR][1000 genomes]
rs914812	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv462902	chr6:34056726-34195011	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv602862	chr6:34056726-34195011	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	56 gene(s)	inside rSNPs	diseases
7	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv1816380	chr6:34110880-34206718	Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34147400-34162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:34149400-34150800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:34149400-34151800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:34149600-34150800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:34149600-34151200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr6:34149600-34151400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:34149800-34150800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:34149800-34151400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:34149800-34151600	ZNF genes & repeats	GM12878-XiMat	blood
10	chr6:34150000-34151000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:34150200-34151000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:34150200-34151200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr6:34150200-34151600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:34150400-34151400	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr6:34150400-34151400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:34150600-34150800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:34150600-34151000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:34150600-34151200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr6:34150600-34151200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr6:34150600-34151200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr6:34150600-34151200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:34150600-34151200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:34150600-34151200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:34150600-34151200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:34150600-34151200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:34150600-34151200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr6:34150600-34151200	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:34150600-34151200	Flanking Active TSS	Fetal Thymus	thymus
29	chr6:34150600-34151200	Flanking Active TSS	Thymus	Thymus
30	chr6:34150600-34151400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:34150600-34151400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:34150600-34151400	Flanking Active TSS	Dnd41	blood

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