Variant report

Variant	rs6834230
Chromosome Location	chr4:99847876-99847877
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:
2	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
3	chr4:99834371..99837889-chr4:99846144..99848239,3	MCF-7	breast:
4	chr4:99181196..99182841-chr4:99847002..99849754,2	MCF-7	breast:
5	chr4:99828711..99830237-chr4:99846843..99849645,2	MCF-7	breast:
6	chr4:99811621..99813284-chr4:99847831..99850392,2	MCF-7	breast:
7	chr4:99805865..99807821-chr4:99847875..99849598,2	MCF-7	breast:
8	chr4:99847842..99851448-chr4:99963294..99966988,3	K562	blood:
9	chr4:99834276..99835783-chr4:99846039..99848218,2	MCF-7	breast:
10	chr4:99703168..99705740-chr4:99845055..99847900,2	K562	blood:
11	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
12	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249055	Chromatin interaction
ENSG00000214559	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000138698	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10489130	1.00[MEX][hapmap]
rs62323189	0.89[AFR][1000 genomes]
rs6814029	1.00[AMR][1000 genomes]
rs6828340	0.90[AMR][1000 genomes]
rs6833074	1.00[AMR][1000 genomes]
rs72893526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905053	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7670154	1.00[MEX][hapmap]
rs7693840	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking 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 target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
2	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
4	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:99823000-99848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:99823000-99849000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:99823000-99849200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:99823200-99848000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:99823200-99848600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:99823200-99848800	Weak transcription	Placenta	Placenta
12	chr4:99827000-99848200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:99830000-99848200	Weak transcription	Fetal Kidney	kidney
14	chr4:99831000-99849200	Weak transcription	Gastric	stomach
15	chr4:99831200-99848000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:99831200-99848000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:99831400-99848800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:99832200-99848000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:99832200-99848000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:99832200-99848000	Weak transcription	Fetal Stomach	stomach
21	chr4:99832200-99848000	Weak transcription	NHDF-Ad	bronchial
22	chr4:99832200-99848800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:99832400-99849000	Weak transcription	Right Atrium	heart
24	chr4:99832600-99849200	Weak transcription	Spleen	Spleen
25	chr4:99836000-99848000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:99837600-99848400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:99838200-99848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:99838400-99848000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:99838400-99848800	Weak transcription	Adipose Nuclei	Adipose
30	chr4:99838600-99848000	Weak transcription	Primary T cells from cord blood	blood
31	chr4:99838800-99848800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:99838800-99848800	Weak transcription	Small Intestine	intestine
33	chr4:99839000-99849200	Weak transcription	Ovary	ovary
34	chr4:99839200-99848400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:99839200-99849400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:99839400-99849200	Weak transcription	Lung	lung
37	chr4:99840400-99848800	Weak transcription	HSMMtube	muscle
38	chr4:99841000-99849200	Weak transcription	Pancreas	Pancrea
39	chr4:99841600-99848000	Weak transcription	HSMM	muscle
40	chr4:99841600-99849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:99841800-99848000	Weak transcription	Fetal Brain Female	brain
42	chr4:99841800-99848000	Weak transcription	Stomach Mucosa	stomach
43	chr4:99842000-99848000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:99842000-99848000	Weak transcription	NHLF	lung
45	chr4:99842800-99848000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:99842800-99848200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:99843200-99848000	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:99843400-99848000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:99843400-99848800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:99844800-99848400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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