Variant report

Variant	rs6544986
Chromosome Location	chr2:47633717-47633718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47628634..47630771-chr2:47631701..47633854,2	K562	blood:
2	chr2:47624768..47627514-chr2:47632818..47635778,2	K562	blood:

Variant related genes	Relation type
ENSG00000095002	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11686493	0.84[EUR][1000 genomes]
rs12986965	0.81[EUR][1000 genomes]
rs13019133	0.84[EUR][1000 genomes]
rs17224332	0.84[EUR][1000 genomes]
rs17224339	0.83[EUR][1000 genomes]
rs6716308	0.91[AFR][1000 genomes]
rs6744343	0.85[EUR][1000 genomes]
rs74179082	0.89[EUR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631200-47642000	Weak transcription	Aorta	Aorta
2	chr2:47631400-47637000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
4	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
6	chr2:47631600-47637200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:47631600-47637400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:47631600-47638600	Weak transcription	Gastric	stomach
9	chr2:47631600-47639400	Weak transcription	Liver	Liver
10	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:47631800-47634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:47631800-47634400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47631800-47635200	Weak transcription	Fetal Intestine Large	intestine
14	chr2:47631800-47635800	Weak transcription	Primary B cells from cord blood	blood
15	chr2:47631800-47635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:47631800-47636400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:47631800-47636800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:47631800-47637200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:47631800-47637200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:47631800-47637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:47631800-47637200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:47631800-47637200	Weak transcription	Brain Anterior Caudate	brain
23	chr2:47631800-47637200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:47631800-47637200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:47631800-47637200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:47631800-47637400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:47631800-47637400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:47631800-47638000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:47631800-47638200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:47631800-47638200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:47631800-47638400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:47631800-47638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:47631800-47638600	Weak transcription	Placenta	Placenta
34	chr2:47631800-47638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:47631800-47638800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:47631800-47638800	Weak transcription	Ovary	ovary
37	chr2:47631800-47638800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:47631800-47639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:47631800-47639000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:47631800-47639200	Weak transcription	Fetal Kidney	kidney
41	chr2:47631800-47639200	Weak transcription	Left Ventricle	heart
42	chr2:47631800-47639600	Weak transcription	HUVEC	blood vessel
43	chr2:47631800-47640400	Weak transcription	Brain Substantia Nigra	brain
44	chr2:47631800-47640800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:47631800-47640800	Weak transcription	NH-A	brain
46	chr2:47631800-47641000	Weak transcription	HMEC	breast
47	chr2:47631800-47642000	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:47631800-47642000	Weak transcription	Spleen	Spleen
49	chr2:47631800-47642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:47631800-47643000	Weak transcription	NHDF-Ad	bronchial

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