Variant report

Variant	rs6749199
Chromosome Location	chr2:74427045-74427046
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74397813..74400618-chr2:74425096..74427227,2	MCF-7	breast:
2	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
3	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
4	chr12:6472551..6473377-chr2:74426944..74427777,2	Hela-S3	cervix:
5	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
6	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
7	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
8	chr2:74425852..74427656-chr2:74647000..74649237,2	MCF-7	breast:
9	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
10	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
11	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
12	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
13	chr2:70474300..70476010-chr2:74425086..74427530,2	MCF-7	breast:
14	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
15	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
16	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
17	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
18	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
19	chr2:74153459..74155877-chr2:74426669..74428848,2	K562	blood:
20	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163170	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000159239	Chromatin interaction
ENSG00000116001	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000115317	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000005448	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000111319	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56067994	1.00[EUR][1000 genomes]
rs56370917	1.00[EUR][1000 genomes]
rs57421736	1.00[EUR][1000 genomes]
rs61023892	1.00[EUR][1000 genomes]
rs6715861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737355	1.00[AMR][1000 genomes]
rs73948708	1.00[AMR][1000 genomes]
rs73952061	1.00[EUR][1000 genomes]
rs73952063	1.00[EUR][1000 genomes]
rs7562660	1.00[EUR][1000 genomes]
rs7598273	1.00[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	esv3342573	chr2:74424669-74427217	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74425000-74427200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:74425000-74427400	Active TSS	Rectal Smooth Muscle	rectum
3	chr2:74425000-74427600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:74425000-74428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:74425000-74428800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:74425200-74427200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:74425200-74427200	Active TSS	Colonic Mucosa	Colon
8	chr2:74425200-74427200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:74425200-74427200	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:74425200-74427400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:74425200-74427400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:74425200-74427400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:74425200-74427400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:74425200-74427400	Active TSS	Fetal Brain Female	brain
15	chr2:74425200-74427600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:74425200-74427600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:74425200-74427600	Active TSS	Right Ventricle	heart
18	chr2:74425200-74428000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:74425200-74428000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:74425200-74428600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:74425200-74428600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:74425400-74427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:74425400-74427200	Flanking Active TSS	Placenta	Placenta
24	chr2:74425400-74427200	Active TSS	Lung	lung
25	chr2:74425400-74427200	Active TSS	HMEC	breast
26	chr2:74425400-74427400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:74425400-74427400	Active TSS	Ovary	ovary
28	chr2:74425400-74427400	Active TSS	Right Atrium	heart
29	chr2:74425400-74427600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:74425400-74427600	Active TSS	Aorta	Aorta
31	chr2:74425400-74428400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr2:74425400-74428600	Active TSS	GM12878-XiMat	blood
33	chr2:74425600-74427200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:74425600-74427200	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:74425600-74427200	Active TSS	Gastric	stomach
36	chr2:74425600-74427200	Active TSS	Small Intestine	intestine
37	chr2:74425600-74427200	Active TSS	Hela-S3	cervix
38	chr2:74425600-74427400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:74425600-74427400	Active TSS	Brain Anterior Caudate	brain
40	chr2:74425600-74427400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:74425600-74427400	Active TSS	Brain Substantia Nigra	brain
42	chr2:74425600-74427400	Active TSS	Left Ventricle	heart
43	chr2:74425600-74427400	Active TSS	Thymus	Thymus
44	chr2:74425600-74427600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:74425600-74427600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:74425600-74427600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:74425600-74427800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:74425800-74427200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr2:74425800-74427200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:74425800-74427600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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