Variant report

Variant	rs2502638
Chromosome Location	chr6:144610195-144610196
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:144610186-144610511	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:144610187-144610512	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr6:144610180-144610512	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
UTRN	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2017652	0.95[EUR][1000 genomes]
rs2473130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473135	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473136	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473137	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473138	0.95[EUR][1000 genomes]
rs2473139	0.95[EUR][1000 genomes]
rs2473140	0.95[EUR][1000 genomes]
rs2473141	0.95[EUR][1000 genomes]
rs2473142	0.95[EUR][1000 genomes]
rs2473143	0.95[EUR][1000 genomes]
rs2473144	0.95[EUR][1000 genomes]
rs2473146	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2473147	0.93[ASN][1000 genomes]
rs2473148	0.91[EUR][1000 genomes]
rs2473149	0.91[EUR][1000 genomes]
rs2473150	0.90[EUR][1000 genomes]
rs2473151	0.86[EUR][1000 genomes]
rs2502628	0.95[EUR][1000 genomes]
rs2502630	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2502631	0.90[EUR][1000 genomes]
rs2502634	0.89[AMR][1000 genomes]
rs2502635	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502642	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2502643	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608400-144626600	Weak transcription	Spleen	Spleen
2	chr6:144608600-144610200	Weak transcription	Lung	lung
3	chr6:144608600-144610600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:144608600-144612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:144608600-144613000	Weak transcription	Placenta	Placenta
6	chr6:144608600-144613400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:144608600-144616600	Weak transcription	Pancreas	Pancrea
8	chr6:144608600-144616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:144608600-144617200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:144608600-144617200	Weak transcription	Gastric	stomach
11	chr6:144608600-144617800	Weak transcription	Stomach Mucosa	stomach
12	chr6:144608600-144619400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:144608600-144626800	Weak transcription	Esophagus	oesophagus
14	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
16	chr6:144608800-144610400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:144608800-144616800	Weak transcription	Fetal Intestine Large	intestine
18	chr6:144608800-144617600	Weak transcription	Right Atrium	heart
19	chr6:144609000-144614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:144609000-144616400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:144609000-144616800	Weak transcription	Aorta	Aorta
22	chr6:144609200-144610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:144609200-144610400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:144609200-144612000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:144609200-144612200	Weak transcription	Liver	Liver
26	chr6:144609200-144612200	Weak transcription	Ovary	ovary
27	chr6:144609200-144612400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:144609200-144612600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:144609200-144612800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:144609200-144613400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:144609200-144613400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:144609200-144613400	Weak transcription	HSMMtube	muscle
33	chr6:144609200-144613400	Weak transcription	NHLF	lung
34	chr6:144609200-144614400	Weak transcription	NHEK	skin
35	chr6:144609200-144616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:144609200-144616400	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:144609200-144616400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:144609200-144616600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:144609200-144616600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:144609200-144616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:144609200-144616600	Weak transcription	Left Ventricle	heart
42	chr6:144609200-144616800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:144609200-144616800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:144609200-144616800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:144609200-144616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:144609200-144616800	Weak transcription	Fetal Lung	lung
47	chr6:144609200-144616800	Weak transcription	Fetal Stomach	stomach
48	chr6:144609200-144617000	Weak transcription	Right Ventricle	heart
49	chr6:144609200-144617200	Weak transcription	Fetal Intestine Small	intestine
50	chr6:144609200-144617200	Weak transcription	Psoas Muscle	Psoas

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