Variant report

Variant	rs367648392
Chromosome Location	chr14:31769501-31769502
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:31769458-31769913	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr14:31769489-31769775	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr14:31769420-31769570	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31720575..31722092-chr14:31768141..31769654,2	MCF-7	breast:

Variant related genes	Relation type
HEATR5A	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31753200-31776600	Weak transcription	Aorta	Aorta
3	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
4	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:31756200-31769800	Weak transcription	Liver	Liver
6	chr14:31756400-31769600	Weak transcription	Lung	lung
7	chr14:31758000-31775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:31760600-31779400	Weak transcription	Pancreas	Pancrea
9	chr14:31760800-31771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:31760800-31772800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:31760800-31773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:31760800-31774000	Weak transcription	Primary B cells from cord blood	blood
13	chr14:31760800-31776400	Weak transcription	Stomach Mucosa	stomach
14	chr14:31760800-31781000	Weak transcription	Fetal Kidney	kidney
15	chr14:31761000-31770600	Weak transcription	A549	lung
16	chr14:31761200-31771200	Weak transcription	Fetal Intestine Large	intestine
17	chr14:31761400-31769600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:31761400-31769600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:31761400-31771200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:31761600-31770600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:31762200-31780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:31762200-31785200	Weak transcription	HMEC	breast
25	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:31762600-31779800	Weak transcription	Esophagus	oesophagus
27	chr14:31762800-31771000	Weak transcription	Right Ventricle	heart
28	chr14:31762800-31783000	Weak transcription	Fetal Thymus	thymus
29	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
30	chr14:31763200-31771200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:31763200-31783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:31763400-31780600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:31763400-31781800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:31763400-31784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:31763600-31774000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:31763600-31784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:31764400-31775000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:31764600-31771400	Weak transcription	NH-A	brain
39	chr14:31764800-31784200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:31765000-31771200	Weak transcription	Gastric	stomach
41	chr14:31765200-31769600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:31766400-31771600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr14:31766800-31774000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:31766800-31778200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:31766800-31786800	Weak transcription	Small Intestine	intestine
46	chr14:31767400-31781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:31767600-31769600	Weak transcription	HUVEC	blood vessel
48	chr14:31767600-31778400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:31767800-31773600	Strong transcription	HSMMtube	muscle

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