Variant report

Variant	rs7150310
Chromosome Location	chr14:31508431-31508432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31506901..31509349-chr14:31549757..31552004,2	K562	blood:
2	chr14:31506672..31509497-chr14:31888212..31890928,2	K562	blood:
3	chr14:31494908..31497563-chr14:31507813..31509450,3	K562	blood:
4	chr14:31503438..31506218-chr14:31506367..31508706,3	MCF-7	breast:
5	chr14:31507963..31510903-chr14:31527349..31529019,3	K562	blood:
6	chr14:31493895..31497563-chr14:31505325..31509450,6	K562	blood:

Variant related genes	Relation type
ENSG00000129493	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11156656	0.90[EUR][1000 genomes]
rs12892643	0.92[ASN][1000 genomes]
rs61976769	0.83[EUR][1000 genomes]
rs61976774	0.83[EUR][1000 genomes]
rs61976777	0.90[EUR][1000 genomes]
rs61976795	0.90[EUR][1000 genomes]
rs61976801	0.90[EUR][1000 genomes]
rs61976804	0.90[EUR][1000 genomes]
rs61976805	0.90[EUR][1000 genomes]
rs61976816	0.90[EUR][1000 genomes]
rs61976819	0.90[EUR][1000 genomes]
rs61976820	0.97[EUR][1000 genomes]
rs61976821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142163	0.90[EUR][1000 genomes]
rs7142712	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496600-31509800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
3	chr14:31496800-31508600	Weak transcription	Lung	lung
4	chr14:31496800-31511200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
6	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
9	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:31497000-31508800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:31497000-31512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:31497000-31512200	Weak transcription	Psoas Muscle	Psoas
13	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
14	chr14:31497200-31509200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:31497400-31512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:31501200-31512800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:31501200-31514600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
22	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:31501400-31511000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:31503200-31509200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:31503400-31509400	Weak transcription	HSMM	muscle
26	chr14:31503400-31520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:31503600-31517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:31506400-31508800	Enhancers	HepG2	liver
30	chr14:31506600-31509000	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:31507000-31508800	Enhancers	Hela-S3	cervix
32	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:31507200-31508600	Enhancers	Fetal Intestine Small	intestine
34	chr14:31507200-31508600	Enhancers	Ovary	ovary
35	chr14:31507200-31510000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
37	chr14:31507600-31508800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:31507800-31514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:31507800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:31508000-31509200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:31508000-31511400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:31508000-31511800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:31508200-31508800	Enhancers	K562	blood
46	chr14:31508200-31512400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:31508200-31512600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:31508200-31512600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:31508200-31512600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:31508200-31512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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