Variant report

Variant	rs6821996
Chromosome Location	chr4:166148388-166148389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166128715..166130497-chr4:166146395..166149065,2	K562	blood:

Variant related genes	Relation type
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12500138	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509117	0.92[EUR][1000 genomes]
rs12513327	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048605	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2063611	0.85[EUR][1000 genomes]
rs28875275	0.81[EUR][1000 genomes]
rs3817236	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3817237	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55825009	0.92[EUR][1000 genomes]
rs56677525	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56681900	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56859187	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59157290	0.87[EUR][1000 genomes]
rs59353629	0.87[EUR][1000 genomes]
rs59537562	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6842924	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847718	0.90[EUR][1000 genomes]
rs72995997	0.87[EUR][1000 genomes]
rs907739	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993842	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv980271	chr4:166140782-166154486	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
3	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:166130600-166200800	Weak transcription	Lung	lung
6	chr4:166131400-166148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:166131600-166165800	Weak transcription	Gastric	stomach
9	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:166132000-166156400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
12	chr4:166135800-166152600	Weak transcription	Brain Germinal Matrix	brain
13	chr4:166135800-166159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:166137600-166162800	Weak transcription	NH-A	brain
16	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:166138000-166157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:166138000-166161600	Weak transcription	HSMMtube	muscle
19	chr4:166138200-166168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:166142800-166165800	Weak transcription	Esophagus	oesophagus
22	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:166143400-166150800	Weak transcription	Left Ventricle	heart
24	chr4:166143600-166156600	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:166143800-166159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:166144000-166150400	Weak transcription	A549	lung
27	chr4:166144000-166150800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:166144000-166152200	Weak transcription	NHLF	lung
29	chr4:166144000-166153600	Weak transcription	GM12878-XiMat	blood
30	chr4:166144000-166153800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:166144000-166156600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:166144000-166159400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:166144000-166161200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:166144000-166162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:166144000-166163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:166144000-166165000	Weak transcription	Primary B cells from cord blood	blood
37	chr4:166144000-166165400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:166144000-166176000	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:166144200-166150200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:166144200-166150400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:166144200-166150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:166144200-166151000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:166144200-166155800	Weak transcription	HepG2	liver
44	chr4:166144200-166160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:166144200-166168800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:166144200-166168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:166144200-166168800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:166144600-166149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:166144600-166149600	Weak transcription	Dnd41	blood
50	chr4:166144600-166150200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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