Variant report

Variant	rs73955242
Chromosome Location	chr2:113324177-113324178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113322694..113325346-chr2:113341042..113343704,2	MCF-7	breast:
2	chr2:113322656..113326696-chr2:113330386..113332759,3	MCF-7	breast:
3	chr2:113299510..113301297-chr2:113323721..113325315,2	K562	blood:

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17040306	1.00[AMR][1000 genomes]
rs17042289	1.00[AMR][1000 genomes]
rs17042293	1.00[AMR][1000 genomes]
rs17042296	1.00[AMR][1000 genomes]
rs17042298	1.00[AMR][1000 genomes]
rs55712130	1.00[AMR][1000 genomes]
rs55900444	1.00[AMR][1000 genomes]
rs56152754	1.00[AMR][1000 genomes]
rs60255523	1.00[AMR][1000 genomes]
rs72952103	1.00[AMR][1000 genomes]
rs7597191	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
2	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113301400-113326200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:113301600-113325400	Weak transcription	Fetal Brain Male	brain
5	chr2:113301600-113325400	Weak transcription	Fetal Heart	heart
6	chr2:113303000-113325400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:113303000-113325600	Strong transcription	Primary T cells from cord blood	blood
8	chr2:113303000-113334400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:113303000-113334400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:113303000-113335200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:113303200-113334200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:113303200-113334600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:113303400-113326200	Strong transcription	Primary B cells from cord blood	blood
14	chr2:113303400-113334400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:113303400-113334600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:113303600-113324400	Strong transcription	Fetal Brain Female	brain
17	chr2:113303600-113325400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:113303600-113325400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:113303600-113325800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:113303600-113326400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:113303600-113326600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:113303600-113334000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:113303600-113334400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:113303600-113334400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:113303600-113334400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:113303600-113334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:113303600-113334600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:113303600-113334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:113303600-113334800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:113303600-113335000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:113303600-113335000	Strong transcription	Fetal Thymus	thymus
32	chr2:113303600-113335200	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:113303800-113334800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:113304000-113327800	Strong transcription	Dnd41	blood
35	chr2:113304400-113333600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:113304400-113334200	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr2:113304400-113334400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:113304400-113335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:113304600-113324200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:113304600-113329400	Strong transcription	Fetal Stomach	stomach
41	chr2:113304600-113334400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:113305400-113334000	Strong transcription	Adipose Nuclei	Adipose
43	chr2:113305400-113334800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:113306600-113334400	Strong transcription	Liver	Liver
45	chr2:113306800-113334600	Strong transcription	HepG2	liver
46	chr2:113311200-113325200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:113311200-113331200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:113311400-113325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:113312400-113334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:113313400-113325600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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