Variant report

Variant	rs73749957
Chromosome Location	chr6:56397465-56397466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56396433..56398982-chr6:56400861..56403143,2	MCF-7	breast:
2	chr6:56390066..56391904-chr6:56396984..56399522,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17830661	0.92[AFR][1000 genomes]
rs4585566	1.00[AFR][1000 genomes]
rs56273018	0.88[AFR][1000 genomes]
rs56851245	0.96[AFR][1000 genomes]
rs57822928	0.92[AFR][1000 genomes]
rs58633665	1.00[AFR][1000 genomes]
rs59063378	0.92[AFR][1000 genomes]
rs59948116	1.00[AFR][1000 genomes]
rs73455767	0.92[AFR][1000 genomes]
rs73455787	0.83[AFR][1000 genomes]
rs73749958	1.00[AFR][1000 genomes]
rs73749960	1.00[AFR][1000 genomes]
rs73749980	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
2	chr6:56362800-56400200	Weak transcription	Colonic Mucosa	Colon
3	chr6:56363000-56402200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:56374600-56399600	Weak transcription	Fetal Thymus	thymus
5	chr6:56376400-56407200	Weak transcription	Gastric	stomach
6	chr6:56377200-56404200	Weak transcription	K562	blood
7	chr6:56380600-56401200	Weak transcription	Psoas Muscle	Psoas
8	chr6:56383200-56402400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:56384400-56402200	Weak transcription	Small Intestine	intestine
10	chr6:56388000-56402200	Strong transcription	Fetal Intestine Large	intestine
11	chr6:56388200-56401800	Strong transcription	Liver	Liver
12	chr6:56388800-56399600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:56390200-56397800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr6:56390200-56401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:56390200-56401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:56390400-56398000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:56390400-56400000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr6:56390600-56403800	Weak transcription	Thymus	Thymus
19	chr6:56390800-56398400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr6:56390800-56402400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:56390800-56403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:56391000-56397800	Weak transcription	Stomach Mucosa	stomach
23	chr6:56391000-56398000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:56391000-56398800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:56391200-56398600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr6:56391400-56397800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:56391400-56398400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:56391400-56398600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:56391400-56400000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:56391400-56400800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:56391400-56400800	Weak transcription	Esophagus	oesophagus
32	chr6:56391400-56400800	Weak transcription	Right Ventricle	heart
33	chr6:56391400-56401200	Weak transcription	Right Atrium	heart
34	chr6:56391400-56402200	Weak transcription	Lung	lung
35	chr6:56391400-56402400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:56391400-56402800	Strong transcription	Fetal Muscle Leg	muscle
37	chr6:56391600-56399800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:56391800-56398000	Strong transcription	GM12878-XiMat	blood
39	chr6:56392000-56399200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:56392000-56400800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:56392200-56398400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:56392200-56401600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:56392400-56401600	Strong transcription	Adipose Nuclei	Adipose
44	chr6:56392400-56406200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:56392600-56399400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:56393000-56401400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:56393000-56402000	Weak transcription	Fetal Heart	heart
48	chr6:56393400-56398000	Strong transcription	Fetal Lung	lung
49	chr6:56393400-56398400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:56393600-56400600	Weak transcription	Fetal Brain Male	brain

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