Variant report

Variant	rs10993195
Chromosome Location	chr9:97206956-97206957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97204620..97207468-chr9:97208573..97210873,2	K562	blood:
2	chr9:97206178..97208805-chr9:97213845..97216691,2	K562	blood:
3	chr9:97202408..97204318-chr9:97206434..97208098,2	K562	blood:
4	chr9:97136576..97138289-chr9:97205602..97208468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148110	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1064560	1.00[YRI][hapmap]
rs10821336	1.00[YRI][hapmap]
rs10821343	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10821344	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10821349	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10821350	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821351	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10993141	1.00[YRI][hapmap]
rs10993142	1.00[YRI][hapmap]
rs10993146	1.00[YRI][hapmap]
rs10993153	1.00[AFR][1000 genomes]
rs10993185	0.87[AMR][1000 genomes]
rs10993190	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10993200	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993202	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993208	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10993209	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10993212	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12335794	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12335976	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12344077	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12349965	0.86[EUR][1000 genomes]
rs12350212	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12352497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13292835	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17351644	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34117319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs600130	1.00[YRI][hapmap]
rs7026123	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7027819	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7029667	1.00[YRI][hapmap]
rs7048293	0.87[AMR][1000 genomes]
rs71263779	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7467208	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7849604	1.00[YRI][hapmap]
rs7863750	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7867183	1.00[YRI][hapmap]
rs7867289	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9886806	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv33917	chr9:97185592-97216212	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv893593	chr9:97196979-97228918	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97169800-97207000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:97172000-97208400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr9:97174200-97207000	Weak transcription	Lung	lung
4	chr9:97176200-97207000	Weak transcription	Left Ventricle	heart
5	chr9:97176800-97218000	Weak transcription	Fetal Brain Female	brain
6	chr9:97177200-97209400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:97181000-97208400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:97181400-97215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:97183000-97212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:97190400-97215800	Weak transcription	Ovary	ovary
11	chr9:97191600-97208200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:97192200-97210000	Weak transcription	NHDF-Ad	bronchial
13	chr9:97192200-97221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:97193000-97211600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr9:97193800-97216000	Weak transcription	Brain Substantia Nigra	brain
16	chr9:97194000-97216000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:97194200-97208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:97194400-97211800	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:97195200-97211800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:97195200-97216000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:97195200-97216000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:97195600-97213000	Weak transcription	Fetal Intestine Small	intestine
23	chr9:97195600-97218000	Weak transcription	Pancreas	Pancrea
24	chr9:97199400-97221400	Weak transcription	Psoas Muscle	Psoas
25	chr9:97199600-97209800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:97199600-97211600	Weak transcription	Fetal Kidney	kidney
27	chr9:97200000-97211000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:97201000-97223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:97201000-97224600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr9:97201000-97225000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr9:97201000-97225800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:97201400-97221400	Weak transcription	Stomach Mucosa	stomach
33	chr9:97201400-97225200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr9:97201600-97209000	Weak transcription	Fetal Lung	lung
35	chr9:97201600-97224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:97202000-97211200	Weak transcription	NH-A	brain
37	chr9:97202000-97211800	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:97202000-97224200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr9:97202200-97215800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:97202200-97216000	Weak transcription	Brain Angular Gyrus	brain
41	chr9:97202200-97225600	Strong transcription	Dnd41	blood
42	chr9:97202400-97222600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:97202600-97207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr9:97202800-97209800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:97202800-97211800	Weak transcription	Brain Germinal Matrix	brain
46	chr9:97203000-97215800	Weak transcription	Brain Anterior Caudate	brain
47	chr9:97203200-97207400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:97203200-97214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:97203200-97225000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:97203400-97207400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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