Variant report

Variant	rs3804444
Chromosome Location	chr5:36157742-36157743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36150277..36153703-chr5:36154371..36162094,13	K562	blood:
2	chr5:36151610..36154488-chr5:36157527..36159493,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164187	Chromatin interaction
ENSG00000145604	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11738371	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12521096	0.81[AMR][1000 genomes]
rs12656216	0.81[ASN][1000 genomes]
rs13190112	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2362973	0.81[ASN][1000 genomes]
rs2362974	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33678	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804445	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804446	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434406	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464812	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736391	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv524991	chr5:36156782-36157815	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv524075	chr5:36156782-36158394	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr5:36153200-36158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:36153200-36160800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:36153200-36164000	Weak transcription	Colonic Mucosa	Colon
4	chr5:36153600-36159000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:36153800-36158400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:36153800-36159000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:36153800-36160800	Weak transcription	Gastric	stomach
8	chr5:36153800-36162600	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr5:36153800-36164000	Weak transcription	Pancreas	Pancrea
10	chr5:36153800-36184400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:36154000-36158000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr5:36154000-36158400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:36154000-36159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:36154000-36160600	Weak transcription	Stomach Mucosa	stomach
15	chr5:36154000-36162000	Genic enhancers	HepG2	liver
16	chr5:36154000-36162600	Genic enhancers	Fetal Intestine Large	intestine
17	chr5:36154000-36168200	Strong transcription	Primary T cells from cord blood	blood
18	chr5:36154000-36168200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:36154000-36175400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:36154000-36175600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:36154000-36175600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:36154000-36184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:36154200-36158800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:36154200-36168400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr5:36154200-36179000	Strong transcription	A549	lung
26	chr5:36154200-36184400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:36154200-36184400	Strong transcription	Fetal Thymus	thymus
28	chr5:36154400-36158800	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr5:36154400-36159000	Genic enhancers	Fetal Brain Female	brain
30	chr5:36154400-36159200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:36154400-36162400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:36154400-36164800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:36154400-36175000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:36154400-36175200	Strong transcription	Thymus	Thymus
35	chr5:36154400-36184400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:36154400-36210800	Weak transcription	Small Intestine	intestine
37	chr5:36154600-36157800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:36154600-36158200	Genic enhancers	Hela-S3	cervix
39	chr5:36154600-36159000	Weak transcription	Brain Angular Gyrus	brain
40	chr5:36154600-36163200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:36154600-36164000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:36154600-36168000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:36154600-36168200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:36154600-36176000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:36154800-36161600	Weak transcription	Brain Substantia Nigra	brain
46	chr5:36155000-36157800	Genic enhancers	Dnd41	blood
47	chr5:36155000-36163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:36155200-36176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:36155400-36157800	Genic enhancers	NHLF	lung
50	chr5:36155800-36158000	Enhancers	NHDF-Ad	bronchial

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