Variant report

Variant	rs6978186
Chromosome Location	chr7:3015905-3015906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10244865	1.00[EUR][1000 genomes]
rs11972536	1.00[EUR][1000 genomes]
rs1317753	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396974	1.00[EUR][1000 genomes]
rs28493200	1.00[EUR][1000 genomes]
rs28507235	1.00[EUR][1000 genomes]
rs41327044	1.00[EUR][1000 genomes]
rs41339146	1.00[EUR][1000 genomes]
rs41367746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41377947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41435148	1.00[EUR][1000 genomes]
rs41447249	1.00[EUR][1000 genomes]
rs41455246	1.00[EUR][1000 genomes]
rs41477951	1.00[EUR][1000 genomes]
rs4310111	1.00[EUR][1000 genomes]
rs4624930	1.00[EUR][1000 genomes]
rs57451179	1.00[EUR][1000 genomes]
rs57688543	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59566518	1.00[EUR][1000 genomes]
rs6952412	1.00[EUR][1000 genomes]
rs6957807	1.00[EUR][1000 genomes]
rs6965863	1.00[EUR][1000 genomes]
rs6968350	1.00[EUR][1000 genomes]
rs6971650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977383	1.00[EUR][1000 genomes]
rs6977622	1.00[EUR][1000 genomes]
rs73292766	1.00[EUR][1000 genomes]
rs746009	1.00[EUR][1000 genomes]
rs7784716	1.00[EUR][1000 genomes]
rs7784813	1.00[EUR][1000 genomes]
rs7785010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7794674	0.85[AMR][1000 genomes]
rs7802270	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3007200-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:3011000-3018200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:3011200-3018000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:3011400-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:3011400-3018000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:3012200-3017400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:3012600-3016800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr7:3012600-3016800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:3012800-3017400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:3013000-3016000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:3013200-3017000	Weak transcription	Fetal Thymus	thymus
14	chr7:3013200-3017800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:3013400-3016800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:3013400-3017200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:3013400-3017200	Weak transcription	Thymus	Thymus
18	chr7:3013600-3017200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:3014200-3018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:3014400-3017200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:3014600-3016000	Enhancers	Brain Germinal Matrix	brain
22	chr7:3015400-3016000	Strong transcription	Primary B cells from cord blood	blood
23	chr7:3015400-3016000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:3015400-3016000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr7:3015400-3017800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:3015600-3016000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:3015600-3016600	Weak transcription	GM12878-XiMat	blood
28	chr7:3015600-3018000	Weak transcription	Primary T cells from cord blood	blood
29	chr7:3015800-3016000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:3015800-3016000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:3015800-3016000	Bivalent Enhancer	Fetal Brain Male	brain
32	chr7:3015800-3017000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr7:3015800-3017400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:3015800-3018000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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