Variant report

Variant	rs229234
Chromosome Location	chr14:31079612-31079613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31078979..31080673-chr14:31091206..31092941,2	MCF-7	breast:
2	chr14:31070404..31072787-chr14:31077582..31080526,2	K562	blood:
3	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12436648	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs229261	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7157968	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 target site	22 gene(s)	inside rSNPs	diseases
3	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
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
2	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
11	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:31064800-31086600	Strong transcription	Dnd41	blood
15	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:31065600-31086600	Strong transcription	HepG2	liver
17	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:31066000-31082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:31068000-31080600	Weak transcription	Right Ventricle	heart
23	chr14:31068200-31080000	Weak transcription	Esophagus	oesophagus
24	chr14:31068400-31079800	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
29	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
32	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
33	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:31072000-31080000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:31072200-31080000	Weak transcription	K562	blood
36	chr14:31072200-31080200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:31072200-31083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
39	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:31072400-31079800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:31072400-31080000	Weak transcription	Brain Anterior Caudate	brain
42	chr14:31072400-31090600	Weak transcription	Lung	lung
43	chr14:31072600-31083600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:31073800-31079800	Weak transcription	Liver	Liver
45	chr14:31073800-31083400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:31073800-31090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:31073800-31090200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:31073800-31090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:31074000-31079800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:31074400-31079800	Weak transcription	Brain Germinal Matrix	brain

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