Variant report

Variant	rs6700518
Chromosome Location	chr1:10210573-10210574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12045943	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070814	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12076922	0.81[JPT][hapmap]
rs12092513	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17034545	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17034558	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17034560	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4415569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60085278	1.00[EUR][1000 genomes]
rs61782922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61782923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61782925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61782926	1.00[ASN][1000 genomes]
rs61782933	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61782936	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61782937	0.91[ASN][1000 genomes]
rs61782938	0.91[ASN][1000 genomes]
rs6659436	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6673887	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6685910	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6687550	0.83[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6691957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10180000-10211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:10182800-10211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:10182800-10221000	Weak transcription	Fetal Brain Male	brain
8	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:10185800-10211400	Weak transcription	A549	lung
11	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:10191800-10215600	Weak transcription	Psoas Muscle	Psoas
14	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
15	chr1:10193400-10211200	Weak transcription	Fetal Kidney	kidney
16	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:10195400-10219400	Weak transcription	Colonic Mucosa	Colon
18	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
19	chr1:10196800-10218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:10197600-10214800	Weak transcription	NHDF-Ad	bronchial
21	chr1:10197600-10225000	Weak transcription	NHEK	skin
22	chr1:10197800-10215600	Weak transcription	Right Ventricle	heart
23	chr1:10197800-10219800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:10197800-10220000	Weak transcription	Stomach Mucosa	stomach
25	chr1:10197800-10220000	Weak transcription	NH-A	brain
26	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
28	chr1:10200000-10212800	Weak transcription	Fetal Brain Female	brain
29	chr1:10201400-10211400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:10201600-10211400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:10201600-10215200	Weak transcription	Aorta	Aorta
32	chr1:10201600-10231200	Weak transcription	HMEC	breast
33	chr1:10202000-10212800	Weak transcription	HepG2	liver
34	chr1:10203200-10213400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
36	chr1:10204000-10211600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:10204000-10215000	Weak transcription	NHLF	lung
38	chr1:10204000-10215400	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:10204200-10211200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:10204400-10218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:10205200-10211400	Weak transcription	K562	blood
43	chr1:10205600-10212400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:10205600-10218400	Weak transcription	Osteobl	bone
45	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:10205800-10212800	Weak transcription	Brain Substantia Nigra	brain
47	chr1:10206000-10211200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:10207000-10211200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:10207200-10211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:10207200-10211200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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