Variant report

Variant	rs4346147
Chromosome Location	chr14:68706606-68706607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:68705222-68706657	K562	blood:	n/a	chr14:68705855-68705862 chr14:68705855-68705865 chr14:68705855-68705862 chr14:68706471-68706478 chr14:68706347-68706364 chr14:68705855-68705862

No.	Distal block	Cell Line	Cell type
1	chr14:68704238..68708340-chr14:69251416..69255393,5	MCF-7	breast:
2	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
3	chr14:68697623..68699184-chr14:68705803..68708348,2	MCF-7	breast:
4	chr14:68704001..68708075-chr14:69257044..69261841,5	MCF-7	breast:
5	chr14:68706085..68708969-chr14:69092512..69094170,2	MCF-7	breast:
6	chr14:68704282..68707165-chr14:68925446..68927896,2	MCF-7	breast:
7	chr14:68607119..68608652-chr14:68706231..68707871,2	MCF-7	breast:
8	chr14:68705377..68708933-chr14:69277914..69280943,3	MCF-7	breast:
9	chr14:68705859..68707707-chr14:68717110..68718892,2	K562	blood:

Variant related genes	Relation type
RN7SL108P	TF binding region
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17105456	1.00[AMR][1000 genomes]
rs17105630	1.00[AMR][1000 genomes]
rs34166395	1.00[AMR][1000 genomes]
rs36111142	1.00[AMR][1000 genomes]
rs57806531	1.00[AMR][1000 genomes]
rs60012660	1.00[AMR][1000 genomes]
rs60443209	1.00[AMR][1000 genomes]
rs61064711	1.00[AMR][1000 genomes]
rs73278308	1.00[AMR][1000 genomes]
rs73278318	1.00[AMR][1000 genomes]
rs73278333	1.00[AMR][1000 genomes]
rs73278338	1.00[AMR][1000 genomes]
rs73278340	1.00[AMR][1000 genomes]
rs73284217	1.00[AMR][1000 genomes]
rs73284218	1.00[AMR][1000 genomes]
rs73284237	1.00[AMR][1000 genomes]
rs73284250	1.00[AMR][1000 genomes]
rs73284252	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68690800-68712800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68697400-68711400	Weak transcription	Spleen	Spleen
3	chr14:68697400-68712400	Weak transcription	Aorta	Aorta
4	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:68699200-68708600	Weak transcription	Lung	lung
6	chr14:68699800-68708400	Weak transcription	Psoas Muscle	Psoas
7	chr14:68700000-68706800	Weak transcription	Brain Anterior Caudate	brain
8	chr14:68700000-68707600	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:68700400-68710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:68700800-68708600	Weak transcription	HSMMtube	muscle
11	chr14:68701200-68710200	Weak transcription	Hela-S3	cervix
12	chr14:68701400-68709800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:68702600-68707400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
15	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
16	chr14:68703200-68707000	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:68703200-68711000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
19	chr14:68703400-68707200	Weak transcription	Ovary	ovary
20	chr14:68703400-68707800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:68703400-68710200	Weak transcription	Brain Angular Gyrus	brain
22	chr14:68703800-68707600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:68703800-68708400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:68704000-68710400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:68704000-68710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:68704200-68706800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:68704200-68707200	Weak transcription	HepG2	liver
28	chr14:68704200-68710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:68704400-68707200	Weak transcription	Liver	Liver
30	chr14:68704400-68707200	Weak transcription	Fetal Lung	lung
31	chr14:68704400-68710200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:68704400-68714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:68705000-68709600	Enhancers	Fetal Thymus	thymus
34	chr14:68705200-68707200	Enhancers	Stomach Mucosa	stomach
35	chr14:68705200-68708000	Enhancers	K562	blood
36	chr14:68705200-68709000	Enhancers	Thymus	Thymus
37	chr14:68705400-68707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:68705400-68707800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:68705600-68707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:68705800-68706800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:68705800-68707000	Enhancers	Placenta	Placenta
42	chr14:68705800-68707000	Enhancers	Pancreas	Pancrea
43	chr14:68705800-68707000	Enhancers	Right Atrium	heart
44	chr14:68705800-68707000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr14:68705800-68707200	Enhancers	Rectal Smooth Muscle	rectum
46	chr14:68705800-68707400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:68705800-68707800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:68705800-68708000	Enhancers	Colonic Mucosa	Colon
49	chr14:68705800-68709000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:68705800-68709000	Enhancers	Fetal Heart	heart

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