Variant report

Variant	rs72855965
Chromosome Location	chr6:44069581-44069582
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44063761..44065519-chr6:44068411..44070135,2	K562	blood:
2	chr6:44067796..44070621-chr6:44070838..44073227,2	K562	blood:
3	chr6:44068135..44073086-chr6:44213618..44216207,4	K562	blood:
4	chr6:44064908..44068117-chr6:44068233..44072672,4	MCF-7	breast:
5	chr6:44069212..44071574-chr6:44077643..44079819,2	MCF-7	breast:
6	chr6:44068030..44072338-chr6:44074661..44078042,4	K562	blood:
7	chr6:44067430..44069915-chr6:44071632..44073899,2	MCF-7	breast:
8	chr6:44064491..44067269-chr6:44068919..44074061,5	MCF-7	breast:
9	chr6:44067911..44070186-chr6:44080975..44083407,2	MCF-7	breast:
10	chr6:44069394..44072990-chr6:44213138..44216186,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12524774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12527942	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528844	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529211	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539379	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16871581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871592	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277127	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35174285	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57571893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58635644	0.91[EUR][1000 genomes]
rs60819581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72855955	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72855957	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72855987	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72855989	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72858115	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72858118	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72858121	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72858128	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72858131	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72867290	0.82[ASN][1000 genomes]
rs9462962	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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 target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
4	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
6	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
7	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:44055400-44069800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:44055400-44071400	Weak transcription	HMEC	breast
11	chr6:44055400-44071800	Weak transcription	Psoas Muscle	Psoas
12	chr6:44055600-44072200	Weak transcription	NH-A	brain
13	chr6:44055800-44071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
17	chr6:44057600-44071200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
20	chr6:44060400-44070000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:44060600-44071400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:44060800-44071200	Weak transcription	Fetal Brain Male	brain
23	chr6:44060800-44071600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:44061600-44071800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:44062400-44071400	Weak transcription	Ovary	ovary
26	chr6:44062600-44071400	Weak transcription	Brain Angular Gyrus	brain
27	chr6:44062600-44071800	Weak transcription	Hela-S3	cervix
28	chr6:44063000-44071400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:44063000-44072000	Weak transcription	Right Ventricle	heart
30	chr6:44063200-44071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:44063200-44076000	Weak transcription	Colonic Mucosa	Colon
32	chr6:44064400-44071800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:44064600-44077600	Weak transcription	Stomach Mucosa	stomach
34	chr6:44065200-44071400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:44065200-44073600	Weak transcription	Pancreas	Pancrea
36	chr6:44065400-44077200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:44065800-44070000	Strong transcription	K562	blood
38	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:44066200-44071200	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:44066200-44071600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:44066600-44069600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:44066600-44070000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr6:44066800-44070200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:44066800-44070600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:44066800-44071400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:44066800-44079400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:44067000-44069600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:44067000-44069600	Strong transcription	Brain Cingulate Gyrus	brain

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