Variant report

Variant	rs6697041
Chromosome Location	chr1:220192823-220192824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220190580..220193578-chr1:220217938..220219443,2	K562	blood:
2	chr1:220191199..220193834-chr1:220197562..220200114,2	K562	blood:
3	chr1:220183714..220185388-chr1:220190799..220194584,3	K562	blood:
4	chr1:220171119..220172994-chr1:220190101..220193081,2	K562	blood:
5	chr1:220186799..220188990-chr1:220192313..220195142,2	K562	blood:
6	chr1:220170067..220172994-chr1:220191581..220193107,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10779396	0.89[AFR][1000 genomes]
rs10863524	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073836	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12080607	1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17006978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007011	1.00[EUR][1000 genomes]
rs17007062	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768674	0.91[AFR][1000 genomes]
rs2248717	0.87[AFR][1000 genomes]
rs2577156	0.89[AFR][1000 genomes]
rs2647422	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs2647479	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs2789794	0.83[YRI][hapmap]
rs2789797	0.83[AFR][1000 genomes]
rs2789803	0.83[AFR][1000 genomes]
rs2789812	0.89[AFR][1000 genomes]
rs2795310	0.83[AFR][1000 genomes]
rs34457701	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6677609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537058	0.83[AFR][1000 genomes]
rs7545314	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:220166400-220199800	Strong transcription	K562	blood
9	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:220166800-220199000	Strong transcription	Dnd41	blood
14	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
17	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:220174400-220198600	Strong transcription	Primary T cells from cord blood	blood
22	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:220176200-220194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:220177600-220197800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:220178000-220195400	Weak transcription	Gastric	stomach
29	chr1:220178000-220197400	Weak transcription	Fetal Brain Male	brain
30	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
31	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
32	chr1:220181200-220193000	Weak transcription	Brain Angular Gyrus	brain
33	chr1:220181400-220198600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:220183400-220193000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:220183400-220195200	Weak transcription	Spleen	Spleen
36	chr1:220183600-220193000	Weak transcription	Colonic Mucosa	Colon
37	chr1:220184400-220194200	Weak transcription	Small Intestine	intestine
38	chr1:220184400-220194400	Weak transcription	Thymus	Thymus
39	chr1:220184800-220193000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:220185000-220193600	Strong transcription	Hela-S3	cervix
41	chr1:220185800-220200200	Strong transcription	Fetal Thymus	thymus
42	chr1:220186000-220198200	Strong transcription	Fetal Intestine Large	intestine
43	chr1:220186200-220194200	Weak transcription	Aorta	Aorta
44	chr1:220186200-220198000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:220186200-220200200	Strong transcription	HSMM	muscle
46	chr1:220186400-220197600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:220186400-220198600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:220186600-220198600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:220186600-220200000	Strong transcription	Adipose Nuclei	Adipose
50	chr1:220186600-220207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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