Variant report

Variant	rs563216226
Chromosome Location	chr4:74031948-74031949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:74031603-74032306	K562	blood:	n/a	n/a
2	SETDB1	chr4:74031328-74032378	U2OS	brain:	n/a	n/a
3	POLR2A	chr4:74030754-74032467	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:74030620..74034303-chr4:74034423..74038254,3	MCF-7	breast:
2	chr4:74030840..74033690-chr4:74081965..74083470,2	K562	blood:
3	chr4:74030007..74032415-chr4:74070930..74073778,2	K562	blood:
4	chr4:74021484..74028247-chr4:74029522..74035409,7	K562	blood:
5	chr4:74028581..74032881-chr4:74033688..74038120,5	K562	blood:
6	chr4:74030522..74032070-chr4:74034879..74036523,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD17	TF binding region
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
2	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
3	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:74005600-74034400	Weak transcription	Esophagus	oesophagus
5	chr4:74005800-74035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:74006800-74034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:74006800-74043400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:74008000-74039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:74008600-74034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
11	chr4:74009800-74034400	Weak transcription	Gastric	stomach
12	chr4:74014600-74046400	Weak transcription	Hela-S3	cervix
13	chr4:74018400-74055200	Weak transcription	Psoas Muscle	Psoas
14	chr4:74018600-74034400	Weak transcription	Colonic Mucosa	Colon
15	chr4:74018600-74034400	Weak transcription	Pancreas	Pancrea
16	chr4:74018600-74034400	Weak transcription	Spleen	Spleen
17	chr4:74018600-74034400	Weak transcription	NHLF	lung
18	chr4:74018800-74034400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:74019200-74043400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:74021000-74032000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:74021200-74035000	Strong transcription	K562	blood
22	chr4:74022200-74034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:74022400-74034400	Weak transcription	Brain Substantia Nigra	brain
24	chr4:74022400-74035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:74024000-74032200	Strong transcription	Fetal Intestine Large	intestine
26	chr4:74024200-74032400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:74024200-74043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:74024800-74034400	Weak transcription	Aorta	Aorta
29	chr4:74025400-74034200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:74025600-74040800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:74027200-74032200	Weak transcription	HUVEC	blood vessel
32	chr4:74027200-74035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:74027400-74032000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:74027800-74033400	Strong transcription	NH-A	brain
35	chr4:74027800-74035400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:74027800-74043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:74028000-74033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:74028200-74037000	Weak transcription	Fetal Heart	heart
39	chr4:74028800-74033000	Weak transcription	Thymus	Thymus
40	chr4:74028800-74033600	Weak transcription	Lung	lung
41	chr4:74028800-74037200	Strong transcription	Osteobl	bone
42	chr4:74029000-74034200	Weak transcription	Fetal Stomach	stomach
43	chr4:74029000-74034400	Weak transcription	Right Ventricle	heart
44	chr4:74029200-74032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:74029200-74032000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:74029200-74032600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:74029200-74032800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:74029200-74033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:74029200-74033600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:74029200-74034200	Weak transcription	Placenta Amnion	Placenta Amnion

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