Variant report

Variant	rs10246445
Chromosome Location	chr7:2981123-2981124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2975475..2978008-chr7:2979225..2981624,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1636167	1.00[CHB][hapmap]
rs17132867	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2933400-2987200	Weak transcription	Gastric	stomach
2	chr7:2943800-2988200	Strong transcription	Primary T cells from cord blood	blood
3	chr7:2944000-2988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:2944200-2981800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr7:2944200-2987400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:2944400-2986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:2944400-2987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:2944400-2988400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:2944800-2987400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:2944800-2987600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:2944800-2987600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:2945400-2987400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:2951000-2988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:2954000-2984800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:2957000-2988000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:2967400-2983000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:2967600-2985800	Strong transcription	Thymus	Thymus
18	chr7:2968600-2983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:2968600-2999400	Weak transcription	Right Atrium	heart
20	chr7:2968800-2992000	Weak transcription	Esophagus	oesophagus
21	chr7:2970000-2987400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:2971400-2986400	Strong transcription	Fetal Thymus	thymus
23	chr7:2972600-2987200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:2974200-2996000	Weak transcription	HUVEC	blood vessel
25	chr7:2974400-2988000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:2975000-2988600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:2975800-2996800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:2977800-2983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:2978200-2981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:2978200-2988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:2978200-2989000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:2978800-2983000	Weak transcription	Fetal Intestine Small	intestine
33	chr7:2979000-2981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:2979200-2983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:2979200-2985000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:2979400-2982400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:2979400-2983600	Weak transcription	Spleen	Spleen
38	chr7:2979600-2982200	Weak transcription	GM12878-XiMat	blood
39	chr7:2979600-2983000	Weak transcription	NHEK	skin
40	chr7:2979800-2982200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:2980000-2982400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:2980000-2999800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:2980200-2982400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:2980400-2981200	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:2980400-2983000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:2980600-2981400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:2980600-2981800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:2980600-2983400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:2980800-2981200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:2980800-2981400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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