Variant report

Variant	rs6744985
Chromosome Location	chr2:20400556-20400557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20336087..20338079-chr2:20398729..20401526,2	MCF-7	breast:
2	chr2:20305860..20308769-chr2:20399902..20401753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234378	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13424733	0.86[EUR][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	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20386200-20401400	Weak transcription	Spleen	Spleen
2	chr2:20386600-20401400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:20389200-20413600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:20391000-20403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:20391600-20400600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:20391600-20400600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:20391600-20400800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:20391600-20402400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:20391600-20404800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:20391800-20400600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:20391800-20402200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
13	chr2:20392000-20400600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:20392800-20401600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:20395600-20403000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:20395800-20400800	Enhancers	Stomach Mucosa	stomach
17	chr2:20396400-20400600	Weak transcription	Fetal Brain Female	brain
18	chr2:20396400-20407000	Weak transcription	Small Intestine	intestine
19	chr2:20397200-20400600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:20398000-20412200	Weak transcription	NH-A	brain
21	chr2:20398400-20401600	Weak transcription	Pancreas	Pancrea
22	chr2:20398600-20406200	Weak transcription	GM12878-XiMat	blood
23	chr2:20399000-20400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:20399000-20400600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:20399000-20401200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:20399000-20401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:20399000-20401600	Weak transcription	NHLF	lung
28	chr2:20399000-20402000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:20399200-20400600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:20399200-20401200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:20399200-20401400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:20399400-20401000	Weak transcription	HepG2	liver
33	chr2:20399400-20408400	Weak transcription	NHDF-Ad	bronchial
34	chr2:20399800-20401200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:20399800-20404000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:20399800-20404600	Strong transcription	Fetal Intestine Small	intestine
37	chr2:20399800-20405600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:20400000-20400600	Genic enhancers	Esophagus	oesophagus
39	chr2:20400000-20403600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:20400000-20404600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:20400000-20405000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr2:20400000-20408200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:20400200-20400800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:20400200-20401200	Weak transcription	Colonic Mucosa	Colon
45	chr2:20400200-20402400	Strong transcription	Placenta	Placenta
46	chr2:20400200-20403400	Strong transcription	HMEC	breast
47	chr2:20400200-20403800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:20400200-20405400	Strong transcription	Fetal Stomach	stomach
49	chr2:20400400-20400800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:20400400-20401000	Genic enhancers	NHEK	skin

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