Variant report

Variant	rs45454199
Chromosome Location	chr6:35423416-35423417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35415085..35416689-chr6:35421187..35424185,2	K562	blood:
2	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
3	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
4	chr6:35423275..35426107-chr6:35428625..35431307,2	MCF-7	breast:
5	chr6:35258451..35260687-chr6:35421514..35424141,3	MCF-7	breast:
6	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:

Variant related genes	Relation type
ENSG00000023892	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000198755	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1076655	0.94[ASN][1000 genomes]
rs11756089	0.94[ASN][1000 genomes]
rs11758353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072887	0.84[ASN][1000 genomes]
rs2076171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800379	0.84[ASN][1000 genomes]
rs41270066	0.97[ASN][1000 genomes]
rs41270070	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45464000	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45472598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45624039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713863	0.84[ASN][1000 genomes]
rs4713866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4713870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713872	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935950	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv602909	chr6:35356640-35423489	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
4	nsv885799	chr6:35378778-35442397	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
5	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active 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	55 gene(s)	inside rSNPs	diseases
6	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
7	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35420800-35423600	Weak transcription	Left Ventricle	heart
2	chr6:35421000-35427200	Weak transcription	Thymus	Thymus
3	chr6:35421000-35435400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:35421200-35425200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:35421200-35425600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:35421200-35425600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:35421200-35426200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:35421200-35435200	Weak transcription	Brain Angular Gyrus	brain
9	chr6:35421200-35435400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:35421400-35423600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:35421400-35424000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:35421400-35424600	Weak transcription	Primary T cells from cord blood	blood
13	chr6:35421400-35424600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:35421400-35424600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:35421400-35425200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:35421400-35425600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:35421400-35425800	Weak transcription	Brain Substantia Nigra	brain
18	chr6:35421400-35435400	Weak transcription	Colonic Mucosa	Colon
19	chr6:35421400-35435400	Weak transcription	Fetal Kidney	kidney
20	chr6:35421400-35435400	Weak transcription	Pancreas	Pancrea
21	chr6:35421600-35423600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:35421600-35424800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:35421600-35427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:35421600-35433800	Weak transcription	HUVEC	blood vessel
25	chr6:35421600-35435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:35421600-35435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:35421600-35435400	Weak transcription	A549	lung
28	chr6:35421600-35435400	Weak transcription	NH-A	brain
29	chr6:35421800-35423600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:35421800-35431000	Weak transcription	Liver	Liver
31	chr6:35422000-35424000	Enhancers	Psoas Muscle	Psoas
32	chr6:35422000-35425400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:35422000-35427000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:35422000-35430200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:35422200-35423600	Weak transcription	Primary B cells from cord blood	blood
36	chr6:35422200-35423800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:35422200-35435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:35422200-35435400	Weak transcription	Small Intestine	intestine
39	chr6:35422400-35423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:35422400-35423800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:35422400-35426000	Weak transcription	NHLF	lung
42	chr6:35422400-35427000	Weak transcription	GM12878-XiMat	blood
43	chr6:35422400-35430200	Weak transcription	HSMM	muscle
44	chr6:35422400-35434800	Strong transcription	Fetal Intestine Small	intestine
45	chr6:35422600-35423600	Weak transcription	Fetal Brain Female	brain
46	chr6:35422600-35427600	Strong transcription	HepG2	liver
47	chr6:35422600-35429200	Strong transcription	Dnd41	blood
48	chr6:35422600-35435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:35422800-35424000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:35422800-35425200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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