Variant report

Variant	rs6700642
Chromosome Location	chr1:226134471-226134472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226133155..226134935-chr1:226134938..226137202,2	K562	blood:
2	chr1:226131582..226134772-chr1:226137252..226139972,3	K562	blood:
3	chr1:226127800..226129740-chr1:226134309..226137044,3	K562	blood:
4	chr1:225824935..225826508-chr1:226133985..226136055,2	K562	blood:
5	chr1:226080382..226082754-chr1:226132657..226134532,2	K562	blood:
6	chr1:226107771..226111419-chr1:226132837..226135522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143768	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10915902	1.00[AMR][1000 genomes]
rs10915903	1.00[AMR][1000 genomes]
rs12058345	0.83[AFR][1000 genomes]
rs12067435	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12078868	0.84[MKK][hapmap];0.81[AMR][1000 genomes]
rs12092868	0.81[AMR][1000 genomes]
rs12094548	0.81[AMR][1000 genomes]
rs16845429	0.86[AFR][1000 genomes]
rs56035614	0.81[AMR][1000 genomes]
rs6671519	0.86[MKK][hapmap];0.90[YRI][hapmap]
rs74150558	0.81[AMR][1000 genomes]
rs74150559	0.81[AMR][1000 genomes]
rs74150561	0.81[AMR][1000 genomes]
rs74150568	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv3385958	chr1:226117875-226149657	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226131400-226136400	Weak transcription	K562	blood
3	chr1:226131800-226135400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr1:226132000-226134800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:226132200-226135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:226132400-226135200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:226133000-226138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:226133000-226138400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:226133000-226138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:226133200-226136600	Weak transcription	Fetal Thymus	thymus
11	chr1:226133200-226138600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:226133400-226134800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:226133800-226136000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr1:226134000-226134600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:226134000-226134800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr1:226134000-226138600	Weak transcription	Gastric	stomach
17	chr1:226134200-226134600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr1:226134200-226134800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr1:226134200-226135000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:226134200-226135600	Weak transcription	Spleen	Spleen
21	chr1:226134200-226138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:226134200-226138400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:226134400-226136400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:226134400-226136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:226134400-226138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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