Variant report

Variant	rs185744682
Chromosome Location	chr14:103541983-103541984
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103538813..103542111-chr14:103549825..103552217,3	K562	blood:
2	chr14:103522023..103526677-chr14:103539052..103543430,10	MCF-7	breast:
3	chr14:103537897..103543787-chr14:103799072..103802497,9	MCF-7	breast:
4	chr14:103534695..103537194-chr14:103540579..103542115,2	K562	blood:
5	chr14:103540581..103543429-chr14:103599360..103601090,2	K562	blood:
6	chr14:103541417..103543680-chr14:103798244..103801088,3	MCF-7	breast:
7	chr14:103541609..103542574-chr14:103758869..103759905,6	MCF-7	breast:
8	chr14:103541841..103542990-chr14:103557624..103558519,3	MCF-7	breast:
9	chr14:103531098..103534720-chr14:103539867..103543696,4	MCF-7	breast:
10	chr14:103541299..103543101-chr14:103573474..103576327,2	MCF-7	breast:
11	chr14:103540748..103543589-chr14:103756933..103760919,4	MCF-7	breast:
12	chr14:103541538..103542526-chr14:103570755..103572781,5	MCF-7	breast:
13	chr14:103532439..103535007-chr14:103541881..103544284,2	MCF-7	breast:
14	chr14:103538201..103539823-chr14:103540540..103542204,2	K562	blood:
15	chr14:103536443..103539577-chr14:103539904..103542632,4	MCF-7	breast:
16	chr14:103521448..103525691-chr14:103536309..103543666,12	MCF-7	breast:
17	chr14:103541412..103542006-chr9:130477766..130478482,2	Hela-S3	cervix:
18	chr11:61554949..61555512-chr14:103541596..103542271,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction
ENSG00000187024	Chromatin interaction
ENSG00000167094	Chromatin interaction
ENSG00000205436	Chromatin interaction
ENSG00000198752	Chromatin interaction
ENSG00000259775	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv1042471	chr14:103159790-103760619	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv542197	chr14:103159790-103760619	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv1831121	chr14:103348177-103566113	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv832882	chr14:103436946-103609181	Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
8	nsv902264	chr14:103520762-103613192	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv1813975	chr14:103525424-103609180	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	esv1818322	chr14:103532219-103606856	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	esv1797163	chr14:103541542-103602729	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103536800-103542400	Enhancers	Stomach Mucosa	stomach
2	chr14:103540400-103542600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr14:103540800-103542000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr14:103541000-103542000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:103541000-103542000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:103541000-103542000	Enhancers	HSMMtube	muscle
7	chr14:103541200-103542000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:103541200-103542000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:103541200-103542200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:103541200-103542400	Weak transcription	Fetal Lung	lung
11	chr14:103541400-103542000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr14:103541400-103542000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr14:103541400-103542600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:103541400-103542600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:103541400-103542600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:103541400-103542600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:103541400-103542600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr14:103541400-103542600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:103541400-103542600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:103541400-103542600	Active TSS	Rectal Smooth Muscle	rectum
21	chr14:103541400-103542600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr14:103541400-103542800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:103541600-103542000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:103541600-103542000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:103541600-103542000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:103541600-103542000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
27	chr14:103541600-103542000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr14:103541600-103542000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:103541600-103542000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:103541600-103542000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:103541600-103542000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:103541600-103542000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr14:103541600-103542000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:103541600-103542000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:103541600-103542000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:103541600-103542000	Flanking Active TSS	Colonic Mucosa	Colon
37	chr14:103541600-103542000	Flanking Active TSS	Esophagus	oesophagus
38	chr14:103541600-103542000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr14:103541600-103542000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr14:103541600-103542000	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr14:103541600-103542000	Flanking Active TSS	Placenta	Placenta
42	chr14:103541600-103542000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr14:103541600-103542000	Flanking Active TSS	Psoas Muscle	Psoas
44	chr14:103541600-103542000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:103541600-103542000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr14:103541600-103542000	Enhancers	Small Intestine	intestine
47	chr14:103541600-103542000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:103541600-103542000	Flanking Active TSS	HMEC	breast
49	chr14:103541600-103542000	Flanking Active TSS	HSMM	muscle
50	chr14:103541600-103542000	Flanking Active TSS	HUVEC	blood vessel

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