Variant report

Variant	rs7225277
Chromosome Location	chr17:46102337-46102338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
2	chr17:46101075..46105793-chr17:46203518..46208640,6	MCF-7	breast:
3	chr17:46102017..46103055-chr17:46695675..46696647,5	K562	blood:
4	chr17:46101220..46105616-chr17:46211133..46214847,5	K562	blood:
5	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:
6	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
7	chr17:46035894..46038484-chr17:46099628..46103418,4	MCF-7	breast:
8	chr17:46102069..46103134-chr17:46150737..46152351,16	K562	blood:
9	chr17:46029177..46031751-chr17:46099712..46102366,3	MCF-7	breast:
10	chr17:46102233..46104443-chr17:46148232..46151120,2	K562	blood:
11	chr17:46102208..46103015-chr17:46955283..46956936,4	K562	blood:
12	chr17:45973640..45975276-chr17:46101393..46103848,2	MCF-7	breast:
13	chr17:46102177..46103619-chr17:46151450..46152271,5	MCF-7	breast:
14	chr17:46101392..46102971-chr17:46203162..46205117,2	MCF-7	breast:
15	chr17:46101875..46102563-chr19:18133146..18133778,2	Hela-S3	cervix:
16	chr17:45960557..45963296-chr17:46100830..46102768,2	MCF-7	breast:
17	chr17:46100592..46104586-chr17:46183324..46186520,4	K562	blood:
18	chr12:14928107..14928898-chr17:46101875..46102670,2	Hela-S3	cervix:
19	chr17:46094604..46097136-chr17:46099608..46102510,2	K562	blood:
20	chr17:46055379..46055989-chr17:46102135..46102792,2	K562	blood:
21	chr17:46100886..46103222-chr17:46270913..46273515,2	MCF-7	breast:
22	chr17:46102152..46102814-chr17:46208435..46209175,3	MCF-7	breast:
23	chr17:46102222..46103170-chr17:46208285..46209232,6	K562	blood:
24	chr17:46101312..46103922-chr17:46212522..46214057,2	MCF-7	breast:
25	chr17:46047240..46049948-chr17:46101636..46104344,3	MCF-7	breast:
26	chr17:46037638..46039949-chr17:46100422..46103113,2	MCF-7	breast:
27	chr17:46033388..46035885-chr17:46101144..46103907,2	MCF-7	breast:
28	chr17:46101261..46104972-chr17:46659979..46662985,3	K562	blood:
29	chr17:46100824..46102860-chr17:46184940..46187814,2	MCF-7	breast:
30	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
31	chr17:46101351..46104299-chr17:46183324..46186063,2	K562	blood:
32	chr17:46101917..46105138-chr17:46176105..46179935,5	K562	blood:
33	chr17:46046874..46048813-chr17:46100923..46104280,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000141293	Chromatin interaction
ENSG00000268032	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56239340	1.00[EUR][1000 genomes]
rs57483258	1.00[EUR][1000 genomes]
rs73319718	1.00[EUR][1000 genomes]
rs73988840	1.00[EUR][1000 genomes]
rs73988847	1.00[EUR][1000 genomes]
rs73988853	1.00[EUR][1000 genomes]
rs8066161	1.00[EUR][1000 genomes]
rs8075483	1.00[EUR][1000 genomes]
rs9675329	1.00[EUR][1000 genomes]
rs9901714	1.00[EUR][1000 genomes]
rs9905168	1.00[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46100400-46103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:46100400-46103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46100600-46102600	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr17:46100600-46103000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:46100600-46103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:46100800-46102400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:46100800-46102400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:46100800-46102400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr17:46100800-46102400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr17:46100800-46102400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:46100800-46102400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr17:46100800-46102400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr17:46100800-46102400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr17:46100800-46102400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr17:46100800-46102400	Enhancers	Gastric	stomach
16	chr17:46100800-46102400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr17:46100800-46102400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr17:46100800-46102400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr17:46100800-46102400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr17:46100800-46102400	Flanking Active TSS	GM12878-XiMat	blood
21	chr17:46100800-46102400	Flanking Active TSS	HUVEC	blood vessel
22	chr17:46100800-46102400	Flanking Active TSS	NH-A	brain
23	chr17:46100800-46102600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr17:46100800-46102600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr17:46100800-46102600	Flanking Active TSS	HSMM	muscle
26	chr17:46100800-46103000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr17:46100800-46103200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:46100800-46103200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr17:46101000-46102400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr17:46101000-46102400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr17:46101000-46102400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:46101000-46102400	Flanking Active TSS	Liver	Liver
33	chr17:46101000-46102400	Flanking Active TSS	HMEC	breast
34	chr17:46101000-46102600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr17:46101000-46103200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr17:46101200-46103200	Active TSS	Psoas Muscle	Psoas
37	chr17:46101400-46102400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:46101400-46102400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr17:46101400-46102400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:46101400-46102600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:46101400-46102800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr17:46101400-46103000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr17:46101400-46103200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:46101400-46103400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr17:46101400-46104200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr17:46101600-46102400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:46101600-46102400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:46101600-46102400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr17:46101600-46102400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr17:46101600-46102400	Flanking Active TSS	Brain Hippocampus Middle	brain

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