Variant report

Variant	rs73740863
Chromosome Location	chr6:27836585-27836586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:27832456-27836599	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27098237..27102845-chr6:27835694..27840254,5	MCF-7	breast:
2	chr6:27836090..27837594-chr6:28374724..28377447,2	K562	blood:
3	chr6:26156108..26158898-chr6:27832756..27836611,3	MCF-7	breast:
4	chr6:26019660..26022685-chr6:27833901..27836758,3	MCF-7	breast:
5	chr6:26123459..26125455-chr6:27834569..27837416,2	MCF-7	breast:
6	chr6:26025188..26029060-chr6:27836295..27841543,4	MCF-7	breast:
7	chr16:4663445..4665916-chr6:27834145..27836986,3	MCF-7	breast:
8	chr1:16840036..16842043-chr6:27834742..27837032,2	MCF-7	breast:
9	chr6:27113113..27117592-chr6:27831181..27837403,7	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BPS2	TF binding region
HIST1H1B	TF binding region
ENSG00000180596	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000153443	Chromatin interaction
ENSG00000180573	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55711161	1.00[AMR][1000 genomes]
rs59103616	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740841	1.00[AMR][1000 genomes]
rs73740855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73740859	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
6	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27835200-27838200	Weak transcription	Lung	lung
2	chr6:27835400-27838200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:27835400-27838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:27835400-27839000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:27835400-27839000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:27835400-27839400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:27835400-27839600	Weak transcription	Colonic Mucosa	Colon
8	chr6:27835400-27839600	Weak transcription	Esophagus	oesophagus
9	chr6:27835400-27839600	Weak transcription	Pancreas	Pancrea
10	chr6:27835600-27836600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:27835600-27839000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:27835600-27839400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:27835600-27839400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:27835600-27839600	Weak transcription	Placenta	Placenta
15	chr6:27835600-27839600	Weak transcription	Right Ventricle	heart
16	chr6:27835600-27839600	Weak transcription	Spleen	Spleen
17	chr6:27835600-27839600	Weak transcription	HSMMtube	muscle
18	chr6:27835800-27836600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:27835800-27838600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:27835800-27838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:27835800-27838800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:27835800-27839000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:27835800-27839000	Weak transcription	Right Atrium	heart
24	chr6:27835800-27839200	Weak transcription	Fetal Stomach	stomach
25	chr6:27835800-27839200	Weak transcription	HMEC	breast
26	chr6:27835800-27839400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:27835800-27839400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:27835800-27839400	Weak transcription	Liver	Liver
29	chr6:27835800-27839400	Weak transcription	Fetal Heart	heart
30	chr6:27835800-27839400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:27835800-27839600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:27836000-27836600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:27836000-27836600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:27836000-27836600	Enhancers	Primary T cells from cord blood	blood
35	chr6:27836000-27838000	Weak transcription	HUVEC	blood vessel
36	chr6:27836000-27838200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:27836000-27838200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:27836000-27838200	Weak transcription	K562	blood
39	chr6:27836000-27838400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:27836000-27838400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:27836000-27838800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:27836000-27838800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:27836000-27838800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:27836000-27838800	Weak transcription	Fetal Kidney	kidney
45	chr6:27836000-27838800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:27836000-27839000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:27836000-27839000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:27836000-27839000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:27836000-27839000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:27836000-27839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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