Variant report

Variant	rs74111210
Chromosome Location	chr1:113690471-113690472
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113680385..113687065-chr1:113687067..113690757,6	K562	blood:
2	chr1:113688711..113690505-chr1:113784711..113786902,2	MCF-7	breast:
3	chr1:113683011..113687065-chr1:113687072..113690657,5	K562	blood:
4	chr1:113683696..113687122-chr1:113688209..113690807,4	MCF-7	breast:
5	chr1:113674756..113677220-chr1:113688268..113690973,2	K562	blood:
6	chr1:113616013..113618025-chr1:113688637..113691001,2	MCF-7	breast:
7	chr1:113686049..113694370-chr1:113929775..113935752,18	MCF-7	breast:
8	chr1:113687424..113692442-chr1:113930468..113933577,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11102584	1.00[ASN][1000 genomes]
rs11102586	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102592	1.00[ASN][1000 genomes]
rs12117273	0.86[EUR][1000 genomes]
rs12118532	0.86[EUR][1000 genomes]
rs12120738	0.86[EUR][1000 genomes]
rs12123072	0.86[EUR][1000 genomes]
rs12123519	0.86[EUR][1000 genomes]
rs12123601	0.86[EUR][1000 genomes]
rs12128658	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133057	0.86[EUR][1000 genomes]
rs12136941	1.00[ASN][1000 genomes]
rs12137299	0.86[EUR][1000 genomes]
rs12141415	0.86[EUR][1000 genomes]
rs12143171	0.86[EUR][1000 genomes]
rs12143341	0.86[EUR][1000 genomes]
rs1216767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216769	1.00[ASN][1000 genomes]
rs1216793	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216802	1.00[ASN][1000 genomes]
rs1216805	1.00[ASN][1000 genomes]
rs1216807	1.00[ASN][1000 genomes]
rs1216808	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216810	1.00[ASN][1000 genomes]
rs1216812	1.00[ASN][1000 genomes]
rs1216813	1.00[ASN][1000 genomes]
rs12184272	0.86[EUR][1000 genomes]
rs12184320	0.86[EUR][1000 genomes]
rs12744661	0.86[EUR][1000 genomes]
rs1310142	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618794	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17031006	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728227	1.00[ASN][1000 genomes]
rs1728229	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766864	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778016	1.00[ASN][1000 genomes]
rs1778017	1.00[ASN][1000 genomes]
rs1778019	1.00[ASN][1000 genomes]
rs1778023	0.83[ASN][1000 genomes]
rs41296184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670587	0.90[ASN][1000 genomes]
rs6695183	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74111213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74114115	0.81[AFR][1000 genomes]
rs7531847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs946215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113684400-113692800	Weak transcription	GM12878-XiMat	blood
2	chr1:113685400-113691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:113685600-113691600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:113686200-113695600	Weak transcription	Stomach Mucosa	stomach
5	chr1:113688200-113692200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:113688400-113691000	Enhancers	Primary T cells from cord blood	blood
7	chr1:113688400-113691000	Enhancers	Fetal Intestine Large	intestine
8	chr1:113688400-113691000	Enhancers	Fetal Intestine Small	intestine
9	chr1:113688400-113691000	Enhancers	Dnd41	blood
10	chr1:113688600-113691000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:113688800-113690800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:113688800-113690800	Enhancers	Placenta	Placenta
13	chr1:113688800-113690800	Enhancers	Fetal Thymus	thymus
14	chr1:113689000-113690600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:113689000-113690600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:113689000-113690600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:113689000-113691000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:113689200-113690800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:113689400-113690600	Enhancers	Thymus	Thymus
20	chr1:113689400-113690800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:113689400-113691000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:113689800-113690800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:113689800-113691000	Enhancers	Small Intestine	intestine
24	chr1:113689800-113691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:113690000-113691200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:113690000-113695600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:113690200-113690800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:113690200-113690800	Enhancers	HepG2	liver
29	chr1:113690200-113691000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:113690200-113691400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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