Variant report

Variant	rs8004123
Chromosome Location	chr14:103978188-103978189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103969311..103972021-chr14:103977810..103980718,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11849549	1.00[AMR][1000 genomes]
rs2756123	0.85[AFR][1000 genomes]
rs2756125	0.87[AFR][1000 genomes]
rs2756130	1.00[AMR][1000 genomes]
rs2756131	1.00[AMR][1000 genomes]
rs2756133	1.00[AMR][1000 genomes]
rs2756137	1.00[AMR][1000 genomes]
rs2765045	0.85[AFR][1000 genomes]
rs2765047	0.87[AFR][1000 genomes]
rs2765048	0.87[AFR][1000 genomes]
rs2765050	1.00[AMR][1000 genomes]
rs2765053	1.00[AMR][1000 genomes]
rs7146717	1.00[AMR][1000 genomes]
rs7156000	1.00[AMR][1000 genomes]
rs911550	0.85[AFR][1000 genomes]
rs911556	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active 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	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS 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	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
5	chr14:103953800-103978800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr14:103958200-103978200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:103962600-103978400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:103962600-103979000	Weak transcription	Right Atrium	heart
10	chr14:103965200-103978600	Strong transcription	Thymus	Thymus
11	chr14:103965400-103978600	Strong transcription	Fetal Intestine Large	intestine
12	chr14:103965800-103978200	Strong transcription	Left Ventricle	heart
13	chr14:103967000-103978800	Strong transcription	Fetal Muscle Leg	muscle
14	chr14:103967000-103979000	Strong transcription	Fetal Stomach	stomach
15	chr14:103967000-103980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:103967000-103980600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:103967000-103981400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:103967200-103978200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:103967200-103978600	Weak transcription	Fetal Heart	heart
20	chr14:103967600-103978400	Strong transcription	Right Ventricle	heart
21	chr14:103967600-103979000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr14:103967800-103978800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:103967800-103979400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:103968800-103979000	Weak transcription	Psoas Muscle	Psoas
25	chr14:103970000-103978800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:103970400-103984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:103970600-103984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:103971000-103984400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:103971400-103978600	Weak transcription	Fetal Brain Male	brain
30	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
31	chr14:103971800-103978800	Weak transcription	Stomach Mucosa	stomach
32	chr14:103971800-103985200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:103971800-103985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:103972000-103983400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:103972000-103984400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:103972000-103985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:103972200-103978800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:103972200-103979400	Weak transcription	Fetal Kidney	kidney
40	chr14:103972200-103985000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:103972600-103978800	Weak transcription	Brain Angular Gyrus	brain
42	chr14:103972800-103979000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:103972800-103979600	Weak transcription	Aorta	Aorta
44	chr14:103973600-103978200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:103973600-103978200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr14:103973600-103979600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:103973800-103979000	Strong transcription	Fetal Thymus	thymus
48	chr14:103974200-103979000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:103974200-103979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:103974600-103985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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