Variant report

Variant	rs375136815
Chromosome Location	chr14:21731042-21731043
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21728426-21734336	GM12891	blood:	n/a	n/a
2	POLR2A	chr14:21728614-21735024	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:21728611-21734968	GM12878	blood:	n/a	n/a
4	PML	chr14:21730440-21731051	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:21728220-21731350	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:21728514-21734782	HepG2	liver:	n/a	n/a
7	CHD1	chr14:21730830-21732887	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:21728424-21734236	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:21731014-21731305	GM12891	blood:	n/a	n/a
10	POLR2A	chr14:21728578-21737722	K562	blood:	n/a	n/a
11	POLR2A	chr14:21728196-21731374	GM12892	blood:	n/a	n/a
12	POLR2A	chr14:21728838-21731128	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr14:21728282-21731377	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:21728577-21731330	GM12891	blood:	n/a	n/a
15	POLR2A	chr14:21730522-21731364	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr14:21731019-21731313	GM12891	blood:	n/a	n/a
17	POLR2A	chr14:21730494-21731052	HL-60	blood:	n/a	n/a
18	POLR2A	chr14:21731034-21731333	GM12891	blood:	n/a	n/a
19	POLR2A	chr14:21725355-21731051	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:21730404-21731344	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr14:21730421-21731290	K562	blood:	n/a	n/a
22	POLR2A	chr14:21728665-21731552	K562	blood:	n/a	n/a
23	POLR2A	chr14:21728279-21734371	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:21730589-21731233	IMR90	lung:	n/a	n/a
25	POLR2A	chr14:21721672-21731192	GM12892	blood:	n/a	n/a
26	POLR2A	chr14:21728609-21731306	GM18505	blood:	n/a	n/a
27	POLR2A	chr14:21728171-21731063	GM12892	blood:	n/a	n/a
28	POLR2A	chr14:21728384-21731306	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21729912..21732388-chr14:21794121..21797950,3	K562	blood:
2	chr14:21730988..21732970-chr14:21824045..21825778,2	K562	blood:
3	chr14:21730203..21732388-chr14:21795365..21797950,2	K562	blood:

No data

Variant related genes	Relation type
HNRNPC	TF binding region
ENSG00000092200	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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 target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS 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 target site	26 gene(s)	inside rSNPs	diseases
14	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv541982	chr14:21676221-21735893	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	nsv541983	chr14:21676221-21742729	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
19	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
21	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
23	nsv541986	chr14:21692703-21735893	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv541987	chr14:21692703-21742729	Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv541988	chr14:21696056-21735893	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv541989	chr14:21696056-21742729	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	esv3357025	chr14:21702262-21737534	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
28	nsv541990	chr14:21702771-21757737	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
30	nsv983804	chr14:21730434-21759672	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21671200-21732000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:21702200-21735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:21710400-21732000	Strong transcription	Fetal Intestine Large	intestine
4	chr14:21720400-21733600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr14:21720600-21732000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:21723400-21731800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:21723600-21731600	Genic enhancers	Primary T cells from cord blood	blood
8	chr14:21723800-21733000	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:21723800-21734200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:21724000-21733800	Strong transcription	Fetal Stomach	stomach
11	chr14:21724200-21735600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:21726000-21733000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:21726200-21731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:21726200-21733600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:21726800-21731600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:21726800-21733400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:21727000-21731800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:21727400-21731600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:21727400-21731800	Strong transcription	Fetal Thymus	thymus
20	chr14:21727400-21732000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:21727600-21731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:21727800-21731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:21727800-21731800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:21727800-21731800	Weak transcription	Stomach Mucosa	stomach
25	chr14:21728600-21737400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr14:21728800-21731400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:21728800-21733800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr14:21729000-21731200	Strong transcription	Fetal Brain Male	brain
29	chr14:21729000-21731800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:21729200-21731200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
31	chr14:21729200-21731600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:21729200-21731600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:21729200-21731800	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr14:21729200-21731800	Genic enhancers	Adipose Nuclei	Adipose
35	chr14:21729200-21731800	Genic enhancers	HUVEC	blood vessel
36	chr14:21729200-21731800	Genic enhancers	Osteobl	bone
37	chr14:21729200-21733200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:21729200-21735600	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr14:21729200-21736800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr14:21729400-21731200	Strong transcription	Fetal Kidney	kidney
41	chr14:21729400-21731400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:21729400-21731400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:21729400-21731600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:21729400-21731800	Weak transcription	Spleen	Spleen
45	chr14:21729600-21731200	Genic enhancers	Brain Substantia Nigra	brain
46	chr14:21729600-21732800	Genic enhancers	Brain Germinal Matrix	brain
47	chr14:21729600-21733800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr14:21729600-21734200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:21729600-21734800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:21729800-21731600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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