Variant report

Variant	rs60245793
Chromosome Location	chr6:44068896-44068897
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44066604..44068973-chr6:44089400..44092003,2	MCF-7	breast:
2	chr6:44063761..44065519-chr6:44068411..44070135,2	K562	blood:
3	chr6:44067796..44070621-chr6:44070838..44073227,2	K562	blood:
4	chr6:44068135..44073086-chr6:44213618..44216207,4	K562	blood:
5	chr6:44064908..44068117-chr6:44068233..44072672,4	MCF-7	breast:
6	chr6:43732418..43734383-chr6:44067605..44069368,2	K562	blood:
7	chr6:44068030..44072338-chr6:44074661..44078042,4	K562	blood:
8	chr6:44067430..44069915-chr6:44071632..44073899,2	MCF-7	breast:
9	chr6:44067911..44070186-chr6:44080975..44083407,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10428726	0.96[ASN][1000 genomes]
rs10807295	0.96[ASN][1000 genomes]
rs10948122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948125	0.96[ASN][1000 genomes]
rs10948126	0.96[ASN][1000 genomes]
rs11966587	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967633	0.96[ASN][1000 genomes]
rs11968386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525049	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12526662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096200	0.96[ASN][1000 genomes]
rs35738079	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs41282654	0.93[ASN][1000 genomes]
rs4711765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59028814	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691447	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912142	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs700006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713050	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.96[ASN][1000 genomes]
rs7771710	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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:124 , 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	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
7	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
8	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:44055400-44069800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:44055400-44071400	Weak transcription	HMEC	breast
12	chr6:44055400-44071800	Weak transcription	Psoas Muscle	Psoas
13	chr6:44055600-44072200	Weak transcription	NH-A	brain
14	chr6:44055800-44071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:44055800-44076000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:44055800-44078800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:44056200-44078400	Weak transcription	Fetal Kidney	kidney
18	chr6:44057600-44071200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:44059600-44079000	Weak transcription	Small Intestine	intestine
21	chr6:44060400-44070000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:44060600-44071400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:44060800-44071200	Weak transcription	Fetal Brain Male	brain
24	chr6:44060800-44071600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:44061600-44071800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:44062400-44071400	Weak transcription	Ovary	ovary
27	chr6:44062600-44071400	Weak transcription	Brain Angular Gyrus	brain
28	chr6:44062600-44071800	Weak transcription	Hela-S3	cervix
29	chr6:44062800-44069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:44063000-44071400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:44063000-44072000	Weak transcription	Right Ventricle	heart
32	chr6:44063200-44071400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:44063200-44076000	Weak transcription	Colonic Mucosa	Colon
34	chr6:44064400-44071800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:44064600-44077600	Weak transcription	Stomach Mucosa	stomach
36	chr6:44065200-44071400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:44065200-44073600	Weak transcription	Pancreas	Pancrea
38	chr6:44065400-44077200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:44065600-44069000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:44065800-44070000	Strong transcription	K562	blood
41	chr6:44066000-44069400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:44066200-44071200	Strong transcription	Fetal Muscle Leg	muscle
45	chr6:44066200-44071600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:44066400-44069400	Strong transcription	Primary T cells from cord blood	blood
47	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:44066600-44069200	Genic enhancers	HepG2	liver
49	chr6:44066600-44069600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:44066600-44070000	Strong transcription	Stomach Smooth Muscle	stomach

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