Variant report

Variant	rs544004437
Chromosome Location	chr4:124338565-124338566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124338250..124340040-chr4:124341621..124343166,2	K562	blood:
2	chr4:124331362..124333358-chr4:124337314..124340093,2	K562	blood:
3	chr4:124337335..124339594-chr4:124343242..124345116,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv595379	chr4:124337522-124395024	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124322800-124339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:124323800-124339400	Weak transcription	Brain Anterior Caudate	brain
3	chr4:124324000-124339000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
6	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:124333400-124339400	Weak transcription	Psoas Muscle	Psoas
8	chr4:124333600-124339000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:124333600-124339200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:124333800-124342600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:124334000-124339600	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:124334200-124338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:124334400-124338800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:124334400-124338800	Weak transcription	HSMMtube	muscle
15	chr4:124334600-124339000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:124334600-124339400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:124334800-124338800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:124334800-124339600	Weak transcription	Small Intestine	intestine
19	chr4:124335000-124339400	Weak transcription	GM12878-XiMat	blood
20	chr4:124335000-124339600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:124335000-124339800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:124335200-124339200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:124335400-124339000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:124335400-124339200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:124335400-124339200	Enhancers	HepG2	liver
26	chr4:124336000-124339800	Weak transcription	Colonic Mucosa	Colon
27	chr4:124336000-124340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:124336200-124339400	Enhancers	HUVEC	blood vessel
29	chr4:124336600-124339400	Enhancers	NHEK	skin
30	chr4:124336600-124340600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:124336800-124338600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:124336800-124339400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:124336800-124339400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:124336800-124339800	Enhancers	HSMM	muscle
35	chr4:124336800-124340200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:124336800-124340200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:124336800-124340600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:124336800-124340800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr4:124336800-124340800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:124337000-124339000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:124337000-124339200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:124337000-124339200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:124337000-124339200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:124337000-124340200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:124337000-124340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:124337000-124340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:124337000-124341000	Enhancers	Hela-S3	cervix
48	chr4:124337200-124340000	Enhancers	Fetal Muscle Leg	muscle
49	chr4:124337200-124340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:124337400-124338600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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