Variant report

Variant	rs34320281
Chromosome Location	chr7:97772004-97772005
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	chr7:97770445..97772942-chr7:97776101..97777659,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216274	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227681	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230846	0.80[ASN][1000 genomes]
rs10231625	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232153	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243993	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252338	0.85[AMR][1000 genomes]
rs10256262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282336	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282640	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12704966	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12704976	0.82[ASN][1000 genomes]
rs13221415	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13221480	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13228463	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13228540	0.88[EUR][1000 genomes]
rs13241860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532381	0.84[ASN][1000 genomes]
rs17169317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169330	0.87[ASN][1000 genomes]
rs28415802	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353490	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35428901	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36081491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958785	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980318	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73404186	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951987	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
3	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
6	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:97763400-97821000	Weak transcription	NHLF	lung
10	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:97763600-97793000	Weak transcription	NH-A	brain
12	chr7:97763600-97814200	Weak transcription	Osteobl	bone
13	chr7:97763600-97815800	Weak transcription	HSMM	muscle
14	chr7:97763800-97784000	Weak transcription	HUVEC	blood vessel
15	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
16	chr7:97764400-97780800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:97765400-97780800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:97766000-97773600	Strong transcription	Primary T cells from cord blood	blood
20	chr7:97766000-97776200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:97766000-97778400	Weak transcription	Small Intestine	intestine
22	chr7:97766000-97778800	Strong transcription	Dnd41	blood
23	chr7:97766000-97795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:97766200-97773800	Strong transcription	Fetal Intestine Small	intestine
25	chr7:97766200-97774200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:97766200-97781600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:97766200-97790000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:97766400-97775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:97766400-97786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:97766600-97772800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:97766600-97773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:97766600-97798400	Weak transcription	HSMMtube	muscle
33	chr7:97766800-97773400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:97766800-97774400	Strong transcription	Fetal Intestine Large	intestine
35	chr7:97766800-97774400	Strong transcription	Fetal Thymus	thymus
36	chr7:97766800-97775000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:97766800-97777000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:97767000-97772400	Strong transcription	Adipose Nuclei	Adipose
39	chr7:97767000-97772400	Strong transcription	Fetal Stomach	stomach
40	chr7:97767000-97773000	Strong transcription	Left Ventricle	heart
41	chr7:97767000-97773000	Strong transcription	HepG2	liver
42	chr7:97767000-97773200	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:97767000-97774600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr7:97767200-97773200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:97767200-97774600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:97767200-97775400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:97767400-97773200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:97767800-97781200	Weak transcription	A549	lung
49	chr7:97767800-97781400	Weak transcription	GM12878-XiMat	blood
50	chr7:97767800-97781400	Weak transcription	HMEC	breast

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