Variant report

Variant	rs11571957
Chromosome Location	chr6:44374998-44374999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44354112..44357665-chr6:44373083..44377186,4	K562	blood:
2	chr6:44354220..44357665-chr6:44374587..44377686,4	K562	blood:
3	chr6:44373289..44375679-chr6:44378205..44380978,2	K562	blood:
4	chr6:44367307..44369127-chr6:44374269..44375932,2	K562	blood:

Variant related genes	Relation type
ENSG00000096401	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11571907	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11571915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193699	1.00[ASN][1000 genomes]
rs1293204	1.00[ASN][1000 genomes]
rs1331293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411905	1.00[ASN][1000 genomes]
rs161706	1.00[ASN][1000 genomes]
rs324136	1.00[ASN][1000 genomes]
rs325005	1.00[ASN][1000 genomes]
rs325006	1.00[ASN][1000 genomes]
rs325007	1.00[ASN][1000 genomes]
rs325008	1.00[ASN][1000 genomes]
rs325009	1.00[ASN][1000 genomes]
rs4308546	1.00[ASN][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs482336	1.00[ASN][1000 genomes]
rs534416	1.00[ASN][1000 genomes]
rs567192	1.00[ASN][1000 genomes]
rs61462867	1.00[ASN][1000 genomes]
rs650075	1.00[ASN][1000 genomes]
rs6927345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740535	1.00[ASN][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472243	1.00[ASN][1000 genomes]
rs9472244	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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 miRNA target site	18 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	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:44357200-44376200	Weak transcription	Stomach Mucosa	stomach
3	chr6:44357600-44377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:44357600-44383200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:44357600-44388200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:44357800-44378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:44358000-44384800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:44358000-44385600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:44358000-44385600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:44358000-44385800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:44358000-44386000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:44358200-44378000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr6:44358200-44381800	Strong transcription	Fetal Thymus	thymus
14	chr6:44358200-44385600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:44358400-44378400	Strong transcription	K562	blood
16	chr6:44358400-44385200	Strong transcription	Dnd41	blood
17	chr6:44358400-44386000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:44358600-44378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:44358600-44381800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:44358800-44385600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:44359200-44382000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:44359400-44386000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:44360200-44381200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:44366000-44383200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:44366400-44375800	Weak transcription	NHLF	lung
27	chr6:44367800-44382000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr6:44368000-44385000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:44368200-44378600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:44368200-44382000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:44368400-44378400	Strong transcription	HSMM	muscle
32	chr6:44368400-44381600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr6:44368400-44383000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:44368400-44386000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:44369400-44385600	Strong transcription	Liver	Liver
36	chr6:44369800-44375600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:44370200-44377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:44370600-44382600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:44370800-44381800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr6:44371200-44382600	Strong transcription	Primary T cells from cord blood	blood
41	chr6:44371400-44377000	Strong transcription	NHEK	skin
42	chr6:44371400-44377000	Strong transcription	Osteobl	bone
43	chr6:44371400-44378000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:44371400-44378400	Strong transcription	Adipose Nuclei	Adipose
45	chr6:44371400-44378400	Strong transcription	HUVEC	blood vessel
46	chr6:44371400-44378600	Strong transcription	Placenta	Placenta
47	chr6:44371400-44381600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:44371400-44381600	Strong transcription	NH-A	brain
49	chr6:44371400-44382200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:44371400-44382200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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