Variant report

Variant	rs418995
Chromosome Location	chr19:18177182-18177183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
2	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
3	chr19:18174502..18178222-chr19:18262412..18264976,3	K562	blood:
4	chr19:18174801..18178222-chr19:18262412..18264976,3	K562	blood:
5	chr19:18175810..18177346-chr19:18219359..18221194,2	MCF-7	breast:
6	chr19:18110500..18112488-chr19:18174652..18177496,3	MCF-7	breast:
7	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:

Variant related genes	Relation type
ENSG00000105647	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17884920	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs418164	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs426906	0.83[AFR][1000 genomes]
rs845379	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv578742	chr19:18168674-18181779	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv911237	chr19:18169449-18193060	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv911238	chr19:18172004-18180194	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv578743	chr19:18172841-18179973	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv911239	chr19:18173603-18191059	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv1067871	chr19:18174031-18186197	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv911240	chr19:18176357-18181779	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18169200-18190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18169600-18185600	Weak transcription	Esophagus	oesophagus
3	chr19:18169600-18195000	Weak transcription	Gastric	stomach
4	chr19:18169800-18178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:18169800-18179600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:18169800-18180000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:18169800-18180200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:18169800-18180200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:18169800-18181000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:18169800-18181000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:18169800-18183000	Weak transcription	Thymus	Thymus
12	chr19:18169800-18183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:18169800-18183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:18169800-18185000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr19:18170000-18178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:18170000-18184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:18170200-18181000	Weak transcription	Fetal Thymus	thymus
18	chr19:18170200-18184200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood
20	chr19:18170400-18180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:18170400-18184000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:18171000-18183000	Weak transcription	GM12878-XiMat	blood
23	chr19:18171800-18180000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:18173200-18179200	Weak transcription	Spleen	Spleen
25	chr19:18173200-18181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18174200-18177800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:18174200-18180800	Strong transcription	Primary T cells from cord blood	blood
28	chr19:18175800-18178400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:18176400-18177200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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