Variant report

Variant	rs73930669
Chromosome Location	chr19:40403950-40403951
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	chr19:40403844..40404724-chr19:40476336..40477181,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7247157	1.00[AMR][1000 genomes]
rs7248128	1.00[AMR][1000 genomes]
rs7249769	1.00[AMR][1000 genomes]
rs7249842	1.00[AMR][1000 genomes]
rs73930670	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1846322	chr19:40350730-40404261	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1851593	chr19:40353368-40405115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1846009	chr19:40353983-40410533	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1066339	chr19:40357018-40427903	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1815453	chr19:40360652-40404261	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv12245	chr19:40362630-40411824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv961218	chr19:40365009-40412126	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1817860	chr19:40365173-40404261	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1847247	chr19:40365173-40404261	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1847508	chr19:40365173-40406611	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1823796	chr19:40365173-40415061	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1828434	chr19:40367739-40409877	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1819299	chr19:40367739-40412951	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv1847388	chr19:40367831-40408856	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv1819359	chr19:40367831-40413151	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv471484	chr19:40373268-40404709	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1800571	chr19:40385437-40408910	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3325321	chr19:40390872-40406938	Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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 target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
2	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
3	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine
4	chr19:40396400-40404400	Weak transcription	Stomach Mucosa	stomach
5	chr19:40398000-40404000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:40399200-40404000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:40399200-40411800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:40400200-40410600	Weak transcription	Fetal Stomach	stomach
9	chr19:40402000-40404000	Weak transcription	Placenta	Placenta
10	chr19:40402000-40419600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:40402600-40404000	Enhancers	HepG2	liver
12	chr19:40402800-40404000	Strong transcription	Fetal Intestine Small	intestine
13	chr19:40402800-40406000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:40403000-40404000	Weak transcription	Spleen	Spleen
15	chr19:40403400-40404000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:40403600-40404000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:40403800-40404000	Weak transcription	Dnd41	blood
18	chr19:40403800-40404400	Enhancers	Thymus	Thymus
19	chr19:40403800-40404600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:40403800-40404600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:40403800-40404600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:40403800-40404600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr19:40403800-40404600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr19:40403800-40404600	Enhancers	Fetal Muscle Leg	muscle
25	chr19:40403800-40404600	Enhancers	A549	lung
26	chr19:40403800-40404600	Enhancers	GM12878-XiMat	blood
27	chr19:40403800-40404800	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:40403800-40404800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:40403800-40404800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr19:40403800-40404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:40403800-40405000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr19:40403800-40405000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:40403800-40405000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr19:40403800-40405400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:40403800-40405400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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