Variant report

Variant	rs184048191
Chromosome Location	chr4:8388149-8388150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8359754..8361327-chr4:8385821..8388152,2	MCF-7	breast:
2	chr4:8385799..8388766-chr4:8429513..8431932,2	K562	blood:
3	chr4:8380860..8383722-chr4:8386573..8388850,2	K562	blood:

Variant related genes	Relation type
ENSG00000251615	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv1005399	chr4:8387281-8397983	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:8360400-8395600	Weak transcription	NHEK	skin
3	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
4	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:8366800-8390000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:8368400-8388400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:8368800-8388800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:8372600-8389800	Strong transcription	Esophagus	oesophagus
12	chr4:8373000-8388200	Weak transcription	Osteobl	bone
13	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
14	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:8377000-8388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:8378000-8391800	Strong transcription	Fetal Brain Female	brain
17	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:8378600-8398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:8378800-8397800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:8379000-8395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:8379400-8392000	Strong transcription	Brain Hippocampus Middle	brain
22	chr4:8379600-8388400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:8381000-8393800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:8381600-8392400	Strong transcription	Brain Cingulate Gyrus	brain
25	chr4:8381800-8394400	Strong transcription	Brain Germinal Matrix	brain
26	chr4:8381800-8398600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:8382400-8401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:8383200-8388200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:8383400-8388200	Weak transcription	Brain Substantia Nigra	brain
30	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr4:8384000-8388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:8384000-8394600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:8384000-8395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:8384000-8399600	Strong transcription	Spleen	Spleen
35	chr4:8384800-8390000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:8384800-8391000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:8384800-8392000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:8384800-8401600	Strong transcription	Thymus	Thymus
39	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
40	chr4:8385000-8388400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:8385200-8395200	Weak transcription	Fetal Kidney	kidney
42	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:8385400-8388800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:8385400-8395600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:8385600-8392400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr4:8385600-8407000	Weak transcription	Stomach Mucosa	stomach
47	chr4:8385800-8391200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:8386000-8388400	Weak transcription	NHLF	lung
49	chr4:8386000-8389800	Weak transcription	NH-A	brain
50	chr4:8386000-8393400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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