Variant report

Variant	rs73955244
Chromosome Location	chr2:113332649-113332650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113330114..113333390-chr2:113334494..113338477,4	K562	blood:
2	chr2:113318002..113320505-chr2:113330905..113333469,2	MCF-7	breast:
3	chr2:113308061..113310862-chr2:113332037..113334578,2	K562	blood:
4	chr2:113322656..113326696-chr2:113330386..113332759,3	MCF-7	breast:
5	chr2:113332582..113336082-chr2:113340503..113343109,3	K562	blood:
6	chr2:113298583..113301230-chr2:113332554..113334475,2	K562	blood:
7	chr2:113328823..113332767-chr2:113340329..113343194,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000207383	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73955281	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	chr2:113303000-113334400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:113303000-113334400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:113303000-113335200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113303200-113334200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:113303200-113334600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:113303400-113334400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:113303400-113334600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:113303600-113334000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:113303600-113334400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:113303600-113334400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:113303600-113334400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:113303600-113334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:113303600-113334600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:113303600-113334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:113303600-113334800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:113303600-113335000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113303600-113335000	Strong transcription	Fetal Thymus	thymus
20	chr2:113303600-113335200	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:113303800-113334800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:113304400-113333600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:113304400-113334200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr2:113304400-113334400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:113304400-113335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:113304600-113334400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:113305400-113334000	Strong transcription	Adipose Nuclei	Adipose
28	chr2:113305400-113334800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:113306600-113334400	Strong transcription	Liver	Liver
30	chr2:113306800-113334600	Strong transcription	HepG2	liver
31	chr2:113312400-113334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:113314600-113335000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:113314800-113334600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr2:113315400-113333800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr2:113315600-113335000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:113320800-113334200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:113320800-113334800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:113320800-113335000	Strong transcription	A549	lung
39	chr2:113321000-113334400	Strong transcription	Fetal Intestine Large	intestine
40	chr2:113321200-113334200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:113321200-113335000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:113321600-113334400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:113321600-113334600	Strong transcription	NHEK	skin
44	chr2:113322200-113334200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:113323800-113333800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:113324600-113334000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:113324600-113334000	Strong transcription	HUVEC	blood vessel
48	chr2:113324600-113334200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:113324600-113334600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:113324800-113334000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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