Variant report

Variant	rs1808209
Chromosome Location	chr17:46140291-46140292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr17:46140280-46140409	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:46140099-46140471	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:46140045-46140340	K562	blood:	n/a	n/a

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	chr17:46138737..46141088-chr17:46142783..46146686,3	K562	blood:
4	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:

Variant related genes	Relation type
ENSG00000266341	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10853093	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158341	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8182234	0.81[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	chr17:46128200-46140800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:46130400-46154600	Strong transcription	Primary T cells from cord blood	blood
3	chr17:46130600-46149800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:46131000-46145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:46131200-46154200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:46131400-46151000	Strong transcription	Thymus	Thymus
7	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:46131400-46154400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:46132600-46148000	Strong transcription	Primary hematopoietic stem cells	blood
10	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
11	chr17:46132800-46143800	Strong transcription	Rectal Smooth Muscle	rectum
12	chr17:46132800-46145600	Strong transcription	Fetal Intestine Small	intestine
13	chr17:46133000-46140400	Strong transcription	NHLF	lung
14	chr17:46133000-46144400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr17:46133000-46145000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:46133000-46145600	Strong transcription	Fetal Intestine Large	intestine
17	chr17:46133000-46154600	Strong transcription	Fetal Brain Female	brain
18	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:46133200-46140800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:46133200-46143400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:46133200-46143600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:46133200-46143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:46133200-46149400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
25	chr17:46133400-46140800	Strong transcription	Colonic Mucosa	Colon
26	chr17:46133400-46141400	Strong transcription	Fetal Muscle Leg	muscle
27	chr17:46133400-46141400	Strong transcription	HepG2	liver
28	chr17:46133400-46142400	Strong transcription	Brain Hippocampus Middle	brain
29	chr17:46133400-46142600	Strong transcription	Colon Smooth Muscle	Colon
30	chr17:46133400-46144400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr17:46133400-46149800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:46133400-46150600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:46133400-46151000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:46133400-46154400	Strong transcription	Brain Germinal Matrix	brain
35	chr17:46133400-46154400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr17:46133400-46154600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:46133400-46155200	Strong transcription	Dnd41	blood
38	chr17:46133600-46141600	Strong transcription	HMEC	breast
39	chr17:46133600-46144800	Strong transcription	A549	lung
40	chr17:46133600-46149400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr17:46133600-46151400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr17:46133600-46154400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr17:46133600-46154400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:46133600-46154600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:46133800-46141000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:46133800-46141600	Strong transcription	HSMMtube	muscle
47	chr17:46133800-46142400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:46134000-46140600	Strong transcription	K562	blood
49	chr17:46134000-46142400	Strong transcription	HSMM	muscle
50	chr17:46134000-46143400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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