Variant report

Variant	rs60017678
Chromosome Location	chr7:2950868-2950869
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	chr7:2944163..2946503-chr7:2948470..2951462,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs41454846	1.00[AMR][1000 genomes]
rs41467749	1.00[EUR][1000 genomes]
rs41484645	1.00[EUR][1000 genomes]
rs41533747	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2926800-2968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:2933400-2987200	Weak transcription	Gastric	stomach
3	chr7:2943000-2954600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:2943400-2961200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:2943800-2988200	Strong transcription	Primary T cells from cord blood	blood
6	chr7:2944000-2988200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:2944200-2981800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr7:2944200-2987400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:2944400-2986800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:2944400-2987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:2944400-2988400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:2944800-2964200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:2944800-2987400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:2944800-2987600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:2944800-2987600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:2945000-2954600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:2945400-2961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:2945400-2961800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:2945400-2987400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:2945800-2951200	Weak transcription	GM12878-XiMat	blood
21	chr7:2945800-2959400	Weak transcription	HUVEC	blood vessel
22	chr7:2946600-2951200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:2947600-2951200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:2947600-2964200	Strong transcription	Thymus	Thymus
25	chr7:2948400-2961600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:2948400-2980600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:2948800-2959000	Weak transcription	Esophagus	oesophagus
28	chr7:2948800-2961000	Weak transcription	Right Atrium	heart
29	chr7:2949000-2966400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:2949200-2951000	Enhancers	Ovary	ovary
31	chr7:2949400-2951000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:2949400-2951800	Strong transcription	Fetal Thymus	thymus
33	chr7:2949400-2952400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:2949400-2956800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:2949400-2957400	Strong transcription	Primary B cells from cord blood	blood
36	chr7:2949600-2951600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:2949800-2952000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:2949800-2958400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:2949800-2977400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:2950000-2951200	Weak transcription	Spleen	Spleen
41	chr7:2950000-2951400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:2950200-2951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:2950200-2951400	Enhancers	Fetal Brain Male	brain
44	chr7:2950200-2953600	Weak transcription	Fetal Intestine Small	intestine
45	chr7:2950600-2951800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr7:2950800-2951400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:2950800-2951400	Enhancers	Brain Hippocampus Middle	brain

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