Variant report

Variant	rs41386651
Chromosome Location	chr7:2970297-2970298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:2970252-2970552	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:2970285-2970879	K562	blood:	n/a	n/a
3	POLR2A	chr7:2970170-2970759	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2961215..2963886-chr7:2968624..2971671,3	K562	blood:
2	chr7:2961215..2963886-chr7:2968624..2970785,2	K562	blood:

Variant related genes	Relation type
CARD11	TF binding region
ENSG00000198286	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1078230	1.00[ASN][1000 genomes]
rs12530632	1.00[ASN][1000 genomes]
rs12535598	1.00[ASN][1000 genomes]
rs12536249	1.00[ASN][1000 genomes]
rs12536265	1.00[ASN][1000 genomes]
rs17736807	1.00[ASN][1000 genomes]
rs17737044	1.00[ASN][1000 genomes]
rs41336352	1.00[AFR][1000 genomes]
rs41347146	0.82[EUR][1000 genomes]
rs41365445	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41373352	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41405151	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41466946	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41467947	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41469649	0.82[EUR][1000 genomes]
rs4428569	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61731201	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6461707	0.80[EUR][1000 genomes]
rs6955350	1.00[ASN][1000 genomes]
rs9648301	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv984495	chr7:2943735-2979225	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv528122	chr7:2955097-2976767	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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:50 , 50 per page) page: 1

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	chr7:2948400-2980600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr7:2949800-2977400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:2951000-2988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:2954000-2984800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:2957000-2988000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:2960000-2974000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:2960200-2978600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:2961600-2977800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:2962600-2974800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:2963000-2977400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:2963800-2971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:2966800-2973600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:2966800-2974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:2967200-2970400	Weak transcription	Primary B cells from cord blood	blood
27	chr7:2967400-2983000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:2967600-2970600	Strong transcription	Fetal Thymus	thymus
29	chr7:2967600-2971800	Weak transcription	Fetal Intestine Small	intestine
30	chr7:2967600-2985800	Strong transcription	Thymus	Thymus
31	chr7:2968200-2970600	Enhancers	Brain Germinal Matrix	brain
32	chr7:2968200-2973000	Strong transcription	Spleen	Spleen
33	chr7:2968400-2971600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:2968400-2974600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:2968600-2971600	Weak transcription	GM12878-XiMat	blood
36	chr7:2968600-2983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:2968600-2999400	Weak transcription	Right Atrium	heart
38	chr7:2968800-2974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:2968800-2992000	Weak transcription	Esophagus	oesophagus
40	chr7:2969000-2971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:2969200-2972000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:2969200-2972400	Weak transcription	NHEK	skin
43	chr7:2969400-2972800	Weak transcription	Fetal Intestine Large	intestine
44	chr7:2969600-2971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:2969600-2977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:2969800-2970800	Weak transcription	Fetal Brain Male	brain
47	chr7:2969800-2972000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:2970000-2987400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:2970200-2971800	Weak transcription	Fetal Brain Female	brain
50	chr7:2970200-2971800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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