Variant report

Variant	rs11870317
Chromosome Location	chr17:46141292-46141293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:46138795-46142780	K562	blood:	n/a	n/a
2	POLR2A	chr17:46141282-46142466	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:46141250-46141465	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:46141260-46142774	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr17:46141262-46142670	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr17:46141246-46142923	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46139828..46141831-chr17:46142959..46145803,2	MCF-7	breast:
2	chr17:46139248..46141644-chr17:46149941..46152183,2	K562	blood:
3	chr17:46115262..46116881-chr17:46141043..46144008,2	K562	blood:
4	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266341	TF binding region
ENSG00000005243	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10853093	0.82[EUR][1000 genomes]
rs28439030	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4794426	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4794427	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7216766	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8066529	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8079982	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8182234	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9905460	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active 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	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS 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	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
2	chr17:46130600-46149800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:46131000-46145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:46131400-46151000	Strong transcription	Thymus	Thymus
6	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46132600-46148000	Strong transcription	Primary hematopoietic stem cells	blood
9	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
10	chr17:46132800-46143800	Strong transcription	Rectal Smooth Muscle	rectum
11	chr17:46132800-46145600	Strong transcription	Fetal Intestine Small	intestine
12	chr17:46133000-46144400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr17:46133000-46145000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:46133000-46145600	Strong transcription	Fetal Intestine Large	intestine
15	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
16	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:46133200-46143400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:46133200-46143600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:46133200-46143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:46133200-46149400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
22	chr17:46133400-46141400	Strong transcription	Fetal Muscle Leg	muscle
23	chr17:46133400-46141400	Strong transcription	HepG2	liver
24	chr17:46133400-46142400	Strong transcription	Brain Hippocampus Middle	brain
25	chr17:46133400-46142600	Strong transcription	Colon Smooth Muscle	Colon
26	chr17:46133400-46144400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr17:46133400-46149800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:46133400-46150600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:46133400-46151000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:46133400-46154400	Strong transcription	Brain Germinal Matrix	brain
31	chr17:46133400-46154400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr17:46133400-46154600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr17:46133400-46155200	Strong transcription	Dnd41	blood
34	chr17:46133600-46141600	Strong transcription	HMEC	breast
35	chr17:46133600-46144800	Strong transcription	A549	lung
36	chr17:46133600-46149400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr17:46133600-46151400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:46133600-46154400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:46133600-46154400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:46133600-46154600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:46133800-46141600	Strong transcription	HSMMtube	muscle
42	chr17:46133800-46142400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:46134000-46142400	Strong transcription	HSMM	muscle
44	chr17:46134000-46143400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:46134000-46146600	Strong transcription	Primary B cells from cord blood	blood
46	chr17:46134000-46154200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr17:46134200-46142000	Strong transcription	NHEK	skin
48	chr17:46134200-46142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:46134200-46143400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:46134200-46146000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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