Variant report

Variant	rs552435940
Chromosome Location	chr4:74053119-74053120
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74051359..74054338-chr4:74122904..74126621,3	K562	blood:
2	chr4:74049747..74053903-chr4:74055413..74060187,5	K562	blood:
3	chr4:74052583..74054936-chr4:74121603..74124404,2	K562	blood:
4	chr4:74052161..74054496-chr4:74124638..74126619,2	MCF-7	breast:
5	chr4:74052443..74054817-chr4:74087360..74090205,2	K562	blood:
6	chr4:74052236..74053936-chr4:74063244..74066174,3	K562	blood:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv879487	chr4:74050725-74090730	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv1792225	chr4:74052028-74076417	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	nsv980454	chr4:74052191-74064769	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74008800-74059600	Weak transcription	Fetal Brain Male	brain
2	chr4:74018400-74055200	Weak transcription	Psoas Muscle	Psoas
3	chr4:74031600-74066800	Weak transcription	HMEC	breast
4	chr4:74031600-74077200	Weak transcription	Small Intestine	intestine
5	chr4:74036600-74088200	Weak transcription	Colonic Mucosa	Colon
6	chr4:74036800-74055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:74036800-74055200	Weak transcription	Pancreas	Pancrea
8	chr4:74036800-74059400	Weak transcription	Spleen	Spleen
9	chr4:74036800-74062800	Weak transcription	Aorta	Aorta
10	chr4:74036800-74064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:74037000-74055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:74037000-74064800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:74037000-74072200	Weak transcription	Gastric	stomach
14	chr4:74037200-74058800	Weak transcription	NHEK	skin
15	chr4:74037200-74064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:74039400-74058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:74039400-74062200	Weak transcription	HSMM	muscle
18	chr4:74039400-74064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:74039400-74068800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:74039600-74053800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:74039600-74055200	Weak transcription	Fetal Stomach	stomach
22	chr4:74039600-74062800	Weak transcription	Thymus	Thymus
23	chr4:74039600-74067600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:74039800-74055600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:74039800-74066000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:74039800-74074600	Weak transcription	Left Ventricle	heart
27	chr4:74040200-74064800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:74040200-74065800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:74040400-74056400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:74041200-74053800	Weak transcription	Brain Germinal Matrix	brain
31	chr4:74041200-74059800	Weak transcription	NHLF	lung
32	chr4:74041600-74055200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:74042200-74055200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:74042400-74064600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:74042600-74053400	Weak transcription	Fetal Brain Female	brain
36	chr4:74043000-74058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:74043000-74063200	Weak transcription	Osteobl	bone
38	chr4:74043200-74055200	Weak transcription	K562	blood
39	chr4:74043200-74067800	Weak transcription	Fetal Intestine Large	intestine
40	chr4:74043200-74088200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:74043400-74056600	Weak transcription	Placenta	Placenta
42	chr4:74043400-74062800	Weak transcription	Fetal Thymus	thymus
43	chr4:74043400-74064400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:74043600-74059200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:74043800-74064400	Weak transcription	NHDF-Ad	bronchial
46	chr4:74044000-74072200	Weak transcription	Fetal Lung	lung
47	chr4:74044000-74078600	Weak transcription	Primary T cells from cord blood	blood
48	chr4:74044400-74053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:74044400-74059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:74044400-74059200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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