Variant report

Variant	rs75694348
Chromosome Location	chr4:74047133-74047134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73983376..73985757-chr4:74044958..74047334,2	K562	blood:
2	chr4:74046445..74048807-chr4:74084717..74087260,2	K562	blood:
3	chr4:74042864..74048117-chr4:74049066..74052625,5	K562	blood:
4	chr4:74028962..74031937-chr4:74045669..74047435,2	K562	blood:
5	chr4:74044682..74047650-chr4:74072993..74074617,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

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	chr4:74036800-74048600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:74036800-74049200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:74036800-74055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:74036800-74055200	Weak transcription	Pancreas	Pancrea
10	chr4:74036800-74059400	Weak transcription	Spleen	Spleen
11	chr4:74036800-74062800	Weak transcription	Aorta	Aorta
12	chr4:74036800-74064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:74037000-74055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:74037000-74064800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:74037000-74072200	Weak transcription	Gastric	stomach
16	chr4:74037200-74048200	Weak transcription	HSMMtube	muscle
17	chr4:74037200-74058800	Weak transcription	NHEK	skin
18	chr4:74037200-74064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:74037400-74050400	Weak transcription	Brain Substantia Nigra	brain
20	chr4:74037800-74052200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:74039400-74058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:74039400-74062200	Weak transcription	HSMM	muscle
23	chr4:74039400-74064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:74039400-74068800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:74039600-74051800	Weak transcription	HUVEC	blood vessel
26	chr4:74039600-74053000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:74039600-74053800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:74039600-74055200	Weak transcription	Fetal Stomach	stomach
29	chr4:74039600-74062800	Weak transcription	Thymus	Thymus
30	chr4:74039600-74067600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:74039800-74055600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:74039800-74066000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:74039800-74074600	Weak transcription	Left Ventricle	heart
34	chr4:74040200-74064800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:74040200-74065800	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:74040400-74053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:74040400-74056400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:74041200-74049200	Weak transcription	Fetal Intestine Small	intestine
39	chr4:74041200-74050000	Weak transcription	Ovary	ovary
40	chr4:74041200-74052600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:74041200-74052600	Weak transcription	Fetal Kidney	kidney
42	chr4:74041200-74053800	Weak transcription	Brain Germinal Matrix	brain
43	chr4:74041200-74059800	Weak transcription	NHLF	lung
44	chr4:74041600-74052800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:74041600-74055200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr4:74042200-74052600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:74042200-74055200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:74042400-74064600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:74042600-74053400	Weak transcription	Fetal Brain Female	brain
50	chr4:74043000-74058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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