Variant report

Variant	rs73985103
Chromosome Location	chr17:45001835-45001836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:44999657-45002150	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr17:44999989-45001900	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45000610..45002133-chr17:45017223..45020134,3	MCF-7	breast:
2	chr17:44999992..45001971-chr17:45015932..45018557,3	MCF-7	breast:
3	chr17:44995313..44999079-chr17:44999263..45002356,3	MCF-7	breast:
4	chr17:45000734..45002965-chr17:45025082..45026604,2	K562	blood:
5	chr15:44089561..44091456-chr17:44999592..45001929,2	MCF-7	breast:
6	chr17:44974470..44976026-chr17:45001185..45003894,2	K562	blood:
7	chr17:45001648..45005787-chr17:45021612..45024553,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261886	TF binding region
ENSG00000184716	Chromatin interaction
ENSG00000108433	Chromatin interaction
ENSG00000210709	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10491148	0.90[EUR][1000 genomes]
rs1638450	0.81[EUR][1000 genomes]
rs16941271	0.90[EUR][1000 genomes]
rs16941273	0.90[EUR][1000 genomes]
rs16941312	0.91[AFR][1000 genomes]
rs16941317	0.96[AFR][1000 genomes]
rs197910	0.81[EUR][1000 genomes]
rs197931	0.81[EUR][1000 genomes]
rs197935	0.81[EUR][1000 genomes]
rs197937	0.81[EUR][1000 genomes]
rs197944	0.81[EUR][1000 genomes]
rs7212691	0.90[EUR][1000 genomes]
rs754474	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44999600-45002000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:44999600-45002200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:44999800-45002000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr17:44999800-45002000	Active TSS	Fetal Intestine Small	intestine
5	chr17:44999800-45002200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:44999800-45002200	Active TSS	Fetal Intestine Large	intestine
7	chr17:44999800-45002200	Active TSS	Psoas Muscle	Psoas
8	chr17:44999800-45002200	Active TSS	GM12878-XiMat	blood
9	chr17:45000000-45002000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:45000800-45002000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr17:45000800-45002200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr17:45001000-45002000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr17:45001000-45002200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:45001000-45002400	Flanking Active TSS	Liver	Liver
15	chr17:45001200-45002000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr17:45001200-45002000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr17:45001200-45002000	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr17:45001200-45002000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr17:45001200-45002000	Flanking Active TSS	HUVEC	blood vessel
20	chr17:45001200-45002200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr17:45001200-45002200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:45001200-45002200	Flanking Active TSS	Dnd41	blood
23	chr17:45001200-45002200	Flanking Active TSS	NHEK	skin
24	chr17:45001200-45002400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:45001200-45002400	Weak transcription	Pancreas	Pancrea
26	chr17:45001200-45002600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr17:45001200-45002800	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:45001200-45002800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr17:45001200-45003600	Weak transcription	Spleen	Spleen
30	chr17:45001200-45005000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:45001200-45005000	Weak transcription	Gastric	stomach
32	chr17:45001200-45005000	Weak transcription	Lung	lung
33	chr17:45001200-45005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:45001200-45005400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:45001200-45011400	Weak transcription	Fetal Brain Male	brain
36	chr17:45001400-45002000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:45001400-45002000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:45001400-45002000	Enhancers	Brain Angular Gyrus	brain
39	chr17:45001400-45002000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr17:45001400-45002000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr17:45001400-45002200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr17:45001400-45002200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr17:45001400-45002200	Flanking Active TSS	A549	lung
44	chr17:45001400-45002200	Flanking Active TSS	HMEC	breast
45	chr17:45001400-45002400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:45001400-45002400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45001400-45002400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:45001400-45002400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr17:45001400-45002400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:45001400-45002600	Enhancers	Brain Cingulate Gyrus	brain

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