Variant report

Variant	rs7604441
Chromosome Location	chr2:173299202-173299203
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173291662..173294325-chr2:173297442..173299980,3	MCF-7	breast:
2	chr2:173291657..173293814-chr2:173297316..173300145,3	MCF-7	breast:
3	chr2:173291236..173294444-chr2:173296195..173299585,6	K562	blood:
4	chr2:173297263..173301573-chr2:173305902..173308346,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLX2-9	chr2:173296163-173300407	ucscGeneNc_uc002uht_1

Variant related genes	Relation type
ENSG00000091409	Chromatin interaction
ENSG00000226963	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10171775	0.87[ASN][1000 genomes]
rs10175670	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10184567	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10195932	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs10197251	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs10497381	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs12469875	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs12622044	0.82[ASN][1000 genomes]
rs16860377	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs2077921	0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs28464102	0.96[ASN][1000 genomes]
rs28540552	0.97[ASN][1000 genomes]
rs3762619	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs3934627	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4281870	0.84[ASN][1000 genomes]
rs4480959	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs7567159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173294000-173301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:173294400-173301400	Weak transcription	Aorta	Aorta
4	chr2:173294600-173302400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:173294600-173302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:173294600-173302600	Weak transcription	NH-A	brain
7	chr2:173294600-173303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:173294600-173303400	Weak transcription	NHLF	lung
9	chr2:173294800-173299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:173294800-173299800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:173294800-173302400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:173294800-173302400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
15	chr2:173295000-173299400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:173295000-173299400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:173295000-173300800	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:173295000-173301200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:173295000-173302200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:173295000-173303800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:173295200-173299400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:173295200-173302600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:173295600-173299400	Enhancers	Brain Hippocampus Middle	brain
26	chr2:173295600-173299800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:173295600-173301600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:173295600-173308600	Enhancers	Fetal Intestine Large	intestine
29	chr2:173295800-173299400	Enhancers	Psoas Muscle	Psoas
30	chr2:173295800-173302400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:173296000-173300600	Enhancers	Colonic Mucosa	Colon
32	chr2:173296000-173301800	Weak transcription	HSMM	muscle
33	chr2:173296000-173302400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:173296000-173305600	Weak transcription	Fetal Lung	lung
35	chr2:173296000-173307600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:173296200-173299800	Weak transcription	Right Ventricle	heart
37	chr2:173296200-173303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:173296200-173305000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:173296200-173307600	Enhancers	Fetal Thymus	thymus
40	chr2:173296400-173299800	Weak transcription	Hela-S3	cervix
41	chr2:173296400-173300200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:173296400-173300600	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:173296400-173301200	Enhancers	Adipose Nuclei	Adipose
44	chr2:173296400-173303400	Weak transcription	Liver	Liver
45	chr2:173296600-173308600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:173296800-173300000	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:173296800-173302000	Enhancers	Brain Anterior Caudate	brain
48	chr2:173297000-173299400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:173297000-173306600	Enhancers	Small Intestine	intestine
50	chr2:173297000-173307600	Enhancers	Pancreas	Pancrea

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