Variant report

Variant	rs117543378
Chromosome Location	chr19:40357358-40357359
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	chr19:40351689..40354731-chr19:40355566..40357616,3	K562	blood:
2	chr19:40337506..40339114-chr19:40356435..40358897,2	MCF-7	breast:

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

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	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	esv1817068	chr19:40357271-40400950	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349800-40357400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
3	chr19:40350400-40372200	Weak transcription	Dnd41	blood
4	chr19:40350600-40365200	Weak transcription	Placenta	Placenta
5	chr19:40351000-40361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:40352000-40363200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:40352000-40364200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
10	chr19:40352600-40364000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:40352800-40360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:40352800-40360600	Weak transcription	Spleen	Spleen
13	chr19:40353400-40366000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr19:40353600-40360000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr19:40354200-40370800	Weak transcription	Fetal Brain Female	brain
16	chr19:40354400-40362600	Weak transcription	Gastric	stomach
17	chr19:40354600-40362800	Weak transcription	Stomach Mucosa	stomach
18	chr19:40354600-40372200	Weak transcription	HepG2	liver
19	chr19:40355200-40372200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:40355800-40367200	Strong transcription	Primary T cells from cord blood	blood
21	chr19:40356000-40358800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:40356000-40359000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:40356200-40364400	Strong transcription	Fetal Intestine Small	intestine
24	chr19:40356200-40364600	Strong transcription	Colonic Mucosa	Colon
25	chr19:40356200-40365800	Strong transcription	Fetal Stomach	stomach
26	chr19:40356400-40358200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:40357000-40362600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:40357200-40358000	Strong transcription	Primary B cells from cord blood	blood
29	chr19:40357200-40358600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:40357200-40359800	Strong transcription	Fetal Muscle Leg	muscle

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