Variant report

Variant	rs7161572
Chromosome Location	chr14:68712251-68712252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
2	chr14:68711454..68713449-chr14:68924641..68927109,2	MCF-7	breast:
3	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
4	chr14:68656043..68661099-chr14:68710391..68716081,7	MCF-7	breast:
5	chr14:68406488..68409167-chr14:68711132..68714083,3	MCF-7	breast:
6	chr14:68710991..68712652-chr14:68725529..68728244,2	MCF-7	breast:
7	chr14:68701385..68703692-chr14:68711450..68713051,3	MCF-7	breast:
8	chr14:68711627..68715466-chr14:69257359..69259390,3	K562	blood:
9	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
10	chr14:68661354..68663465-chr14:68710043..68713099,3	MCF-7	breast:
11	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
12	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
13	chr14:68710399..68712782-chr14:68867549..68870456,2	MCF-7	breast:
14	chr14:68430287..68432974-chr14:68711186..68712879,2	MCF-7	breast:
15	chr14:68711091..68724838-chr14:69248065..69264571,70	MCF-7	breast:
16	chr14:68431037..68432737-chr14:68710733..68713003,2	MCF-7	breast:
17	chr14:68631809..68634739-chr14:68711873..68715827,4	MCF-7	breast:
18	chr14:68712152..68714666-chr14:68861670..68863441,2	MCF-7	breast:
19	chr14:68561716..68564326-chr14:68711214..68713015,2	MCF-7	breast:
20	chr14:68711443..68714293-chr14:68715594..68717440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000243546	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17105191	0.81[AFR][1000 genomes]
rs17105200	0.81[AFR][1000 genomes]
rs17105229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4584756	0.86[AFR][1000 genomes]
rs7145107	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7145443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8012217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8013323	1.00[AFR][1000 genomes];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:99 , 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	chr14:68697400-68712400	Weak transcription	Aorta	Aorta
3	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
5	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
6	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
7	chr14:68704400-68714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:68706800-68712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68707000-68712400	Weak transcription	Placenta	Placenta
10	chr14:68707000-68713400	Weak transcription	GM12878-XiMat	blood
11	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
12	chr14:68707400-68715800	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:68707600-68712400	Weak transcription	HepG2	liver
14	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:68707800-68712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:68707800-68712400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:68707800-68717800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:68707800-68718000	Enhancers	Stomach Mucosa	stomach
19	chr14:68708200-68715400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:68708400-68715400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:68709000-68715400	Weak transcription	Esophagus	oesophagus
22	chr14:68709200-68712400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:68709200-68712400	Weak transcription	Lung	lung
24	chr14:68709600-68717800	Enhancers	Adipose Nuclei	Adipose
25	chr14:68709800-68712400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:68709800-68712400	Weak transcription	Pancreas	Pancrea
27	chr14:68710000-68718800	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:68710200-68712400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:68710200-68712400	Enhancers	HSMMtube	muscle
30	chr14:68710200-68712800	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:68710200-68713600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:68710200-68713600	Enhancers	Brain Germinal Matrix	brain
33	chr14:68710200-68713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:68710200-68718600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:68710200-68718800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:68710200-68719000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:68710200-68719400	Enhancers	Fetal Heart	heart
38	chr14:68710400-68713000	Enhancers	Brain Substantia Nigra	brain
39	chr14:68710400-68713800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:68710400-68713800	Enhancers	Small Intestine	intestine
41	chr14:68710400-68715000	Enhancers	K562	blood
42	chr14:68710400-68718600	Enhancers	Brain Hippocampus Middle	brain
43	chr14:68710400-68718600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr14:68710400-68718800	Enhancers	Fetal Stomach	stomach
45	chr14:68710600-68712400	Enhancers	HSMM	muscle
46	chr14:68710600-68712400	Weak transcription	NHDF-Ad	bronchial
47	chr14:68710600-68712400	Enhancers	NHEK	skin
48	chr14:68710600-68713200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:68710800-68714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:68710800-68717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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