Variant report

Variant	rs11844177
Chromosome Location	chr14:103865818-103865819
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103864300..103866211-chr14:103870088..103873019,2	K562	blood:
2	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:
3	chr14:103863256..103865942-chr14:103868346..103872041,4	MCF-7	breast:
4	chr1:11969845..11972544-chr14:103864785..103867784,2	MCF-7	breast:
5	chr14:103865764..103868576-chr14:103891943..103893901,2	K562	blood:
6	chr14:103860462..103863338-chr14:103864074..103867631,4	K562	blood:
7	chr14:103837532..103839266-chr14:103865081..103866860,2	MCF-7	breast:
8	chr14:103850341..103851952-chr14:103865752..103867363,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction
ENSG00000201801	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2145858	1.00[AMR][1000 genomes]
rs2403181	1.00[AMR][1000 genomes]
rs4906328	1.00[AMR][1000 genomes]
rs6575993	1.00[AMR][1000 genomes]
rs7153380	1.00[AMR][1000 genomes]
rs8014010	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
3	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
4	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
9	chr14:103859400-103866000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:103860400-103866200	Weak transcription	Lung	lung
11	chr14:103860400-103871400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:103860800-103867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:103860800-103871400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:103861000-103866200	Weak transcription	Spleen	Spleen
15	chr14:103861000-103866400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:103861000-103866600	Weak transcription	Dnd41	blood
17	chr14:103861000-103867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:103861000-103867800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:103861000-103867800	Weak transcription	Esophagus	oesophagus
20	chr14:103861000-103867800	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:103862000-103866400	Weak transcription	Fetal Thymus	thymus
24	chr14:103862000-103867600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
26	chr14:103862400-103866000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:103862400-103867000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:103862400-103867400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:103862400-103870200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:103862600-103866400	Weak transcription	Thymus	Thymus
31	chr14:103862600-103866800	Weak transcription	Primary B cells from cord blood	blood
32	chr14:103862600-103867600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:103862600-103867600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:103862800-103867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:103863200-103866000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:103863200-103866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:103863200-103866400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:103863200-103867600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:103863200-103867800	Weak transcription	Aorta	Aorta
40	chr14:103863200-103867800	Weak transcription	Placenta	Placenta
41	chr14:103863200-103870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:103863400-103866600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:103863800-103871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:103864200-103866000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:103864200-103866000	Enhancers	Brain Cingulate Gyrus	brain
46	chr14:103864200-103866600	Enhancers	Brain Substantia Nigra	brain
47	chr14:103864200-103867800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr14:103864200-103867800	Enhancers	HMEC	breast
49	chr14:103864200-103868600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:103864200-103871200	Enhancers	Monocytes-CD14+_RO01746	blood

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