Variant report

Variant	rs565590538
Chromosome Location	chr4:103438550-103438551
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103432462..103434714-chr4:103437509..103439750,2	MCF-7	breast:
2	chr4:103422074..103424260-chr4:103435435..103440016,5	K562	blood:
3	chr4:103427425..103432192-chr4:103434612..103439992,6	K562	blood:
4	chr4:103420508..103426563-chr4:103435112..103439160,7	MCF-7	breast:
5	chr4:103438272..103440503-chr4:103440992..103443713,2	MCF-7	breast:
6	chr4:103421746..103424260-chr4:103437368..103440522,4	K562	blood:
7	chr4:103438442..103440658-chr4:103444124..103446101,2	MCF-7	breast:
8	chr4:103434755..103437108-chr4:103437162..103439778,2	MCF-7	breast:
9	chr4:103438526..103440026-chr4:103449881..103451773,2	K562	blood:
10	chr4:103427425..103429169-chr4:103437672..103439992,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109320	Chromatin interaction
ENSG00000260651	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1004030	chr4:103419352-103504042	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537203	chr4:103419352-103504042	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv3340092	chr4:103438380-103438555	Enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103423800-103439800	Weak transcription	Ovary	ovary
2	chr4:103423800-103439800	Weak transcription	Pancreas	Pancrea
3	chr4:103423800-103439800	Weak transcription	Spleen	Spleen
4	chr4:103423800-103445800	Weak transcription	Lung	lung
5	chr4:103424000-103446000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:103424800-103442400	Weak transcription	HSMM	muscle
7	chr4:103425200-103439800	Weak transcription	Right Ventricle	heart
8	chr4:103425200-103456400	Weak transcription	Osteobl	bone
9	chr4:103425600-103448400	Weak transcription	Fetal Thymus	thymus
10	chr4:103426000-103439000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:103426000-103439200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:103426000-103444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:103426000-103452600	Weak transcription	NH-A	brain
14	chr4:103426000-103456400	Weak transcription	NHDF-Ad	bronchial
15	chr4:103426200-103438800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:103426200-103439000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:103426200-103439600	Weak transcription	Stomach Mucosa	stomach
18	chr4:103426200-103445800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:103426400-103439800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:103426400-103442800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:103426400-103442800	Weak transcription	NHEK	skin
22	chr4:103426400-103450000	Weak transcription	HMEC	breast
23	chr4:103426400-103452600	Weak transcription	HSMMtube	muscle
24	chr4:103426400-103460800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:103427000-103439200	Weak transcription	Liver	Liver
26	chr4:103428000-103442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:103428000-103449200	Weak transcription	Fetal Kidney	kidney
28	chr4:103429200-103446200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:103431400-103439000	Weak transcription	Small Intestine	intestine
30	chr4:103431400-103439200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:103431400-103439800	Weak transcription	Gastric	stomach
32	chr4:103431800-103447000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:103432800-103439800	Weak transcription	Right Atrium	heart
34	chr4:103433200-103466000	Weak transcription	Hela-S3	cervix
35	chr4:103434000-103439200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:103434000-103442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:103434000-103446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:103434400-103439600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:103435000-103440800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr4:103435400-103439600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:103435800-103439800	Weak transcription	Left Ventricle	heart
42	chr4:103436000-103439200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:103436000-103439200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:103436000-103439200	Weak transcription	Brain Substantia Nigra	brain
45	chr4:103436000-103439400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:103436000-103439400	Weak transcription	HepG2	liver
47	chr4:103436000-103441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:103436000-103448600	Weak transcription	HUVEC	blood vessel
49	chr4:103437600-103438600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
50	chr4:103437600-103439600	Weak transcription	Primary T cells fromperipheralblood	blood

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