Variant report

Variant	rs10229961
Chromosome Location	chr7:7648608-7648609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7648154..7650779-chr7:7652193..7654912,3	K562	blood:
2	chr7:7645252..7648963-chr7:7651944..7654788,5	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1013002	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1016028	0.81[EUR][1000 genomes]
rs10276434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10807958	0.83[AMR][1000 genomes]
rs11773679	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976831	0.81[EUR][1000 genomes]
rs11983756	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1978188	0.83[AMR][1000 genomes]
rs2051910	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2051912	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2051913	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2051914	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2108063	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108067	0.81[EUR][1000 genomes]
rs2190247	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2190248	0.81[EUR][1000 genomes]
rs2348265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2348339	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2881890	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4380838	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4720741	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4725005	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6463705	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6463706	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6946022	0.86[EUR][1000 genomes]
rs6948157	0.81[EUR][1000 genomes]
rs6958110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964397	0.81[EUR][1000 genomes]
rs6974246	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7384200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7783239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7789187	0.81[EUR][1000 genomes]
rs7789287	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7791344	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7796709	0.81[EUR][1000 genomes]
rs7801367	0.86[EUR][1000 genomes]
rs7805565	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7806046	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7808788	0.81[EUR][1000 genomes]
rs7810367	1.00[AMR][1000 genomes]
rs9640043	0.81[EUR][1000 genomes]
rs9640044	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9640045	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs972600	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
4	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
7	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
8	chr7:7610600-7654400	Weak transcription	Gastric	stomach
9	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:7617400-7649200	Weak transcription	Psoas Muscle	Psoas
11	chr7:7621600-7656400	Weak transcription	Aorta	Aorta
12	chr7:7622600-7650400	Weak transcription	HUVEC	blood vessel
13	chr7:7635000-7650000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:7636200-7651400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:7636600-7652000	Weak transcription	Hela-S3	cervix
16	chr7:7637400-7649200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:7637600-7651400	Weak transcription	Thymus	Thymus
18	chr7:7637600-7658000	Weak transcription	Fetal Intestine Small	intestine
19	chr7:7638000-7651600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:7639600-7649000	Weak transcription	Fetal Lung	lung
21	chr7:7639600-7649400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:7639600-7653800	Weak transcription	Fetal Heart	heart
23	chr7:7639600-7657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:7639800-7649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:7639800-7649200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:7639800-7651800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:7639800-7674600	Weak transcription	A549	lung
28	chr7:7640000-7650600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:7640000-7651000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:7645600-7649000	Strong transcription	Primary B cells from cord blood	blood
31	chr7:7645600-7649000	Strong transcription	HSMM	muscle
32	chr7:7645600-7649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:7645600-7649200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:7645600-7649200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:7645600-7649200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:7645600-7649200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:7645600-7649200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:7645600-7649200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:7645600-7649200	Strong transcription	Adipose Nuclei	Adipose
40	chr7:7645600-7649400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:7645600-7649800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:7645600-7650800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:7645800-7649000	Strong transcription	Osteobl	bone
44	chr7:7646000-7648800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:7646200-7648800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:7646800-7650600	Weak transcription	Fetal Thymus	thymus
47	chr7:7647000-7649000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:7647000-7649200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:7647000-7649400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:7647000-7649400	Weak transcription	HMEC	breast

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