Variant report

Variant	rs199603671
Chromosome Location	chr12:9552946-9552947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv898744	chr12:9518222-9668380	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv898745	chr12:9529015-9716126	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1825533	chr12:9541542-9736409	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv1795205	chr12:9542718-9559624	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv1816184	chr12:9542718-9559624	Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv1801325	chr12:9542918-9561619	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv1817147	chr12:9542918-9561619	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv1831904	chr12:9542918-9561619	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv1848205	chr12:9542918-9561619	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv508665	chr12:9546233-9601755	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv18207	chr12:9546593-9555051	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv1799431	chr12:9547602-9559624	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
19	esv1791798	chr12:9547802-9559424	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
20	esv1819230	chr12:9547802-9559424	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
21	esv1825682	chr12:9547802-9561619	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
22	nsv8906	chr12:9547853-9555995	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
23	esv1812419	chr12:9547988-9559624	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
24	esv1826429	chr12:9547988-9559624	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers	lncRNA	n/a	inside rSNPs	diseases
25	esv1850370	chr12:9547988-9559624	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
26	esv1824331	chr12:9548378-9555017	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
27	esv1822739	chr12:9548378-9561963	Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
28	esv1793078	chr12:9548715-9555023	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
29	esv1833375	chr12:9548715-9555023	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
30	esv1823974	chr12:9548715-9555319	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers	lncRNA	n/a	inside rSNPs	diseases
31	esv1845778	chr12:9548715-9559624	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
32	esv1809337	chr12:9548715-9562313	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
33	esv1843425	chr12:9548915-9561619	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
34	esv1821022	chr12:9548915-9562113	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
35	esv1844584	chr12:9549069-9555023	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
36	esv1811034	chr12:9549069-9555319	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
37	esv1819977	chr12:9549069-9555319	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
38	esv1810443	chr12:9549069-9557983	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
39	nsv975442	chr12:9549134-9561794	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	lncRNA	n/a	inside rSNPs	diseases
40	esv2568009	chr12:9550935-9731598	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
41	esv1848848	chr12:9551375-9555110	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
42	nsv557357	chr12:9551375-9726469	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9540600-9555200	Weak transcription	Fetal Thymus	thymus
2	chr12:9540600-9555400	Weak transcription	Thymus	Thymus
3	chr12:9541400-9557200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9541800-9557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9542800-9555400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:9542800-9555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:9544600-9555400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:9544800-9555400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:9544800-9555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:9545400-9573800	Weak transcription	Fetal Intestine Small	intestine
12	chr12:9545400-9575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:9545600-9555600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:9545800-9555600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:9546000-9555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:9546200-9559400	Weak transcription	A549	lung
17	chr12:9547000-9558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:9547200-9556800	Weak transcription	Fetal Stomach	stomach
19	chr12:9547400-9556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:9547400-9557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:9549200-9555400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:9549400-9555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:9549400-9555600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:9549400-9558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:9549400-9559200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:9549400-9564000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:9551400-9557000	Weak transcription	Dnd41	blood
28	chr12:9551600-9554600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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