Variant report

Variant	rs34030120
Chromosome Location	chr14:68554068-68554069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68546114..68557712-chr14:68603959..68613316,23	MCF-7	breast:
2	chr14:68552453..68555171-chr14:69280931..69283453,2	MCF-7	breast:
3	chr14:68410049..68412875-chr14:68551981..68554163,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2588822	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767361	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767362	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767363	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767380	1.00[AMR][1000 genomes]
rs2767381	1.00[AMR][1000 genomes]
rs2767386	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	esv3424025	chr14:68553899-68555797	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68542200-68555000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:68542800-68555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:68544000-68555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:68545800-68555800	Weak transcription	Small Intestine	intestine
5	chr14:68546200-68554800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:68547200-68567400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:68547400-68555000	Weak transcription	Psoas Muscle	Psoas
8	chr14:68549200-68555400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:68549600-68555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:68550000-68554800	Weak transcription	NHEK	skin
11	chr14:68550200-68555000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68551400-68555000	Weak transcription	Fetal Kidney	kidney
13	chr14:68551400-68555200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:68552600-68554800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:68552800-68554200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:68552800-68555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:68552800-68555400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:68553000-68554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:68553000-68555200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:68553000-68555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:68553200-68555200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:68553200-68555200	Weak transcription	HepG2	liver
23	chr14:68553200-68555400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:68553200-68555600	Weak transcription	Stomach Mucosa	stomach
25	chr14:68553200-68556000	Weak transcription	Fetal Intestine Small	intestine
26	chr14:68553400-68555000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:68553400-68555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:68553400-68555400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:68554000-68554200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:68554000-68554400	Enhancers	Colon Smooth Muscle	Colon
31	chr14:68554000-68554400	Flanking Active TSS	Fetal Lung	lung
32	chr14:68554000-68554400	Genic enhancers	A549	lung

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