Variant report

Variant	rs6849701
Chromosome Location	chr4:73950301-73950302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73936677..73938384-chr4:73949086..73951133,2	K562	blood:
2	chr4:73933733..73940261-chr4:73944971..73951272,10	K562	blood:
3	chr4:73946540..73955069-chr4:73955536..73964230,11	K562	blood:

Variant related genes	Relation type
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10028486	0.80[EUR][1000 genomes]
rs11933644	0.87[ASN][1000 genomes]
rs16849102	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16849106	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16849108	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16849146	0.96[ASN][1000 genomes]
rs16849150	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16849151	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16849172	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16849185	0.85[EUR][1000 genomes]
rs2061574	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2061575	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2061576	0.90[ASN][1000 genomes]
rs2061577	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306057	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2366716	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28373296	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28460851	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28709646	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28776801	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796680	0.88[ASN][1000 genomes]
rs4019514	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4615148	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4631009	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694589	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56235322	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56382488	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57330350	0.93[ASN][1000 genomes]
rs61149200	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61468561	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61661011	0.87[ASN][1000 genomes]
rs67995155	0.91[EUR][1000 genomes]
rs6824334	0.80[EUR][1000 genomes]
rs6845845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851670	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72663032	0.83[ASN][1000 genomes]
rs72859248	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72859249	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72861861	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7661799	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7670286	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7674847	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7675007	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7675027	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7676278	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7679277	0.87[ASN][1000 genomes]
rs7687433	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7690799	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7691344	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7692749	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7694505	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73936000-73956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:73936000-73956400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:73936000-73956400	Weak transcription	Aorta	Aorta
4	chr4:73936000-73956400	Weak transcription	Esophagus	oesophagus
5	chr4:73936000-73956400	Weak transcription	Gastric	stomach
6	chr4:73936000-73956400	Weak transcription	Pancreas	Pancrea
7	chr4:73936000-73956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:73936000-73969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:73936200-73951800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:73936200-73956400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:73936200-73956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:73936400-73951800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:73936400-73952000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:73936400-73970000	Weak transcription	Stomach Mucosa	stomach
16	chr4:73937600-73951400	Strong transcription	Placenta	Placenta
17	chr4:73938600-73951200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr4:73938600-73953600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:73938800-73954800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:73939000-73969600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:73939200-73951200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:73939200-73951200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:73939400-73953000	Strong transcription	Dnd41	blood
26	chr4:73939400-73955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:73939400-73970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:73940400-73950800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:73940400-73951200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
31	chr4:73940600-73950800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:73940600-73951200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr4:73940600-73951200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:73940600-73951600	Strong transcription	HepG2	liver
35	chr4:73940600-73951800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:73941800-73956600	Weak transcription	HMEC	breast
37	chr4:73942000-73956400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:73942600-73956400	Weak transcription	Small Intestine	intestine
39	chr4:73942800-73956400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:73942800-73956800	Weak transcription	Colonic Mucosa	Colon
41	chr4:73943000-73950400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:73943000-73956400	Weak transcription	Fetal Brain Male	brain
43	chr4:73943200-73951400	Weak transcription	Ovary	ovary
44	chr4:73943200-73953600	Weak transcription	Brain Substantia Nigra	brain
45	chr4:73943200-73953800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:73943200-73956000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:73943200-73956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:73943200-73956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:73943200-73956600	Weak transcription	NHLF	lung
50	chr4:73943200-73957000	Weak transcription	Psoas Muscle	Psoas

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