Variant report

Variant	rs6674695
Chromosome Location	chr1:224393942-224393943
allele	C/T
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	chr1:224368986..224373517-chr1:224390991..224394171,5	MCF-7	breast:
2	chr1:224374669..224377400-chr1:224391823..224393961,2	K562	blood:
3	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:
4	chr1:224392534..224394870-chr1:224515641..224518461,2	K562	blood:
5	chr1:224369572..224371706-chr1:224393451..224396309,2	MCF-7	breast:
6	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
7	chr1:224392784..224394708-chr20:49347702..49350093,2	MCF-7	breast:
8	chr1:224391151..224394255-chr1:224397647..224399379,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000232628	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10495222	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1060386	0.84[ASN][1000 genomes]
rs10799529	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10799539	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10916468	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10916489	0.85[ASN][1000 genomes]
rs10916512	0.84[ASN][1000 genomes]
rs10916515	0.83[ASN][1000 genomes]
rs10916533	0.85[AMR][1000 genomes]
rs10916535	0.85[AMR][1000 genomes]
rs11588603	0.84[ASN][1000 genomes]
rs11588981	0.84[ASN][1000 genomes]
rs12024159	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12134258	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12142842	0.88[ASN][1000 genomes]
rs12143450	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12143576	0.84[ASN][1000 genomes]
rs1401318	0.88[AMR][1000 genomes]
rs2405302	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897102	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4290029	0.92[ASN][1000 genomes]
rs4446934	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4653997	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55977521	0.88[ASN][1000 genomes]
rs56023673	0.84[ASN][1000 genomes]
rs6426060	0.88[ASN][1000 genomes]
rs6668744	0.82[ASN][1000 genomes]
rs6682662	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753995	0.84[ASN][1000 genomes]
rs72755906	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72755909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72755914	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755915	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72755917	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7541131	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs908802	0.88[ASN][1000 genomes]
rs908803	0.88[ASN][1000 genomes]
rs908804	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv3394698	chr1:224392129-224394152	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
2	chr1:224390600-224394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224390800-224394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:224391000-224394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224391000-224394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:224391600-224394200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:224392200-224394400	Enhancers	Fetal Intestine Small	intestine
11	chr1:224392200-224394400	Enhancers	Stomach Mucosa	stomach
12	chr1:224392600-224400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:224392800-224394000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr1:224392800-224394000	Enhancers	NHEK	skin
15	chr1:224392800-224394200	Enhancers	Primary B cells from cord blood	blood
16	chr1:224392800-224394400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:224392800-224394400	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:224392800-224394400	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:224392800-224394400	Enhancers	Adipose Nuclei	Adipose
20	chr1:224392800-224394400	Enhancers	Liver	Liver
21	chr1:224392800-224394600	Enhancers	Fetal Intestine Large	intestine
22	chr1:224392800-224395000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:224393200-224394000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:224393200-224394000	Enhancers	Small Intestine	intestine
25	chr1:224393400-224394000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:224393400-224394000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:224393400-224394400	Flanking Active TSS	HepG2	liver
28	chr1:224393400-224395200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:224393400-224399000	Weak transcription	Brain Germinal Matrix	brain
30	chr1:224393600-224394000	Enhancers	HMEC	breast
31	chr1:224393600-224394000	Enhancers	HSMM	muscle
32	chr1:224393600-224394000	Enhancers	HUVEC	blood vessel
33	chr1:224393600-224394000	Enhancers	NHDF-Ad	bronchial
34	chr1:224393600-224394200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:224393600-224394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:224393600-224394200	Weak transcription	Pancreas	Pancrea
37	chr1:224393600-224394400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:224393600-224394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:224393600-224394400	Enhancers	K562	blood
40	chr1:224393600-224394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:224393600-224397000	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:224393600-224397200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:224393600-224397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:224393600-224397600	Weak transcription	Left Ventricle	heart
45	chr1:224393600-224397600	Weak transcription	Spleen	Spleen
46	chr1:224393600-224397800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:224393600-224397800	Weak transcription	Right Ventricle	heart
48	chr1:224393600-224398800	Weak transcription	Brain Substantia Nigra	brain
49	chr1:224393600-224398800	Weak transcription	Fetal Kidney	kidney
50	chr1:224393600-224399000	Weak transcription	Brain Anterior Caudate	brain

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