Variant report

Variant	rs2277127
Chromosome Location	chr6:44121947-44121948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44121899-44122068	GM12878	blood:	n/a	n/a
2	HMGN3	chr6:44121663-44122044	K562	blood:	n/a	n/a
3	POLR2A	chr6:44121945-44122565	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr6:44121033-44122979	K562	blood:	n/a	n/a
5	POLR2A	chr6:44121859-44121964	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:44121774-44122667	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr6:44121259-44123186	K562	blood:	n/a	n/a
8	POLR2A	chr6:44121691-44122683	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:44121839-44122059	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:44121921-44122007	HUVEC	blood vessel:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44120007..44122916-chr6:44124754..44127632,2	MCF-7	breast:
2	chr6:44109910..44113195-chr6:44121591..44124104,3	MCF-7	breast:
3	chr6:44120961..44123352-chr6:44203847..44206405,2	MCF-7	breast:
4	chr6:44118243..44122722-chr6:44213509..44216822,7	K562	blood:
5	chr6:44116664..44118179-chr6:44121311..44123694,2	MCF-7	breast:
6	chr6:44116712..44124292-chr6:44220837..44227181,13	K562	blood:
7	chr6:44120702..44122564-chr6:44124871..44126375,2	MCF-7	breast:
8	chr6:44121069..44123277-chr6:44140139..44142162,2	MCF-7	breast:
9	chr6:44119815..44122131-chr6:44214868..44216729,3	MCF-7	breast:
10	chr6:44121941..44123730-chr6:44131518..44134133,2	K562	blood:
11	chr6:44120816..44122837-chr6:44213507..44216498,3	MCF-7	breast:
12	chr6:44098855..44101234-chr6:44121944..44124290,2	MCF-7	breast:
13	chr6:44064455..44066858-chr6:44120767..44125089,3	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN11	TF binding region
ENSG00000137225	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000265700	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10456527	0.94[JPT][hapmap]
rs12524774	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12527942	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12528844	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12529211	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1539379	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16871581	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871592	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35174285	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57571893	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58635644	0.86[EUR][1000 genomes]
rs60819581	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72855955	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72855957	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72855965	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72855987	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72855989	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72858115	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72858118	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72858121	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72858128	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72858131	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462962	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
3	chr6:44108600-44122600	Weak transcription	A549	lung
4	chr6:44109800-44124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:44113200-44122400	Strong transcription	Fetal Brain Female	brain
6	chr6:44113200-44122400	Strong transcription	NHEK	skin
7	chr6:44113400-44122400	Strong transcription	NHLF	lung
8	chr6:44113600-44122600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:44114000-44129400	Weak transcription	NHDF-Ad	bronchial
10	chr6:44114200-44128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:44114200-44129200	Weak transcription	NH-A	brain
12	chr6:44115200-44129400	Weak transcription	Hela-S3	cervix
13	chr6:44115600-44128400	Weak transcription	Dnd41	blood
14	chr6:44117200-44124200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:44117200-44131200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:44117400-44129200	Weak transcription	HSMM	muscle
17	chr6:44117600-44129400	Weak transcription	HSMMtube	muscle
18	chr6:44117800-44130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:44118000-44122600	Weak transcription	Aorta	Aorta
20	chr6:44118000-44123600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:44118000-44124200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:44118000-44124200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:44118000-44124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:44118000-44125000	Weak transcription	Brain Substantia Nigra	brain
25	chr6:44118000-44126200	Weak transcription	Fetal Lung	lung
26	chr6:44118200-44124000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:44118200-44124400	Weak transcription	Brain Angular Gyrus	brain
28	chr6:44118200-44129000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:44118400-44122800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:44118400-44124000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:44118400-44124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:44118400-44124800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:44118600-44130600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:44118800-44126800	Weak transcription	Primary T cells from cord blood	blood
35	chr6:44119400-44122600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:44119600-44122800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:44119600-44124200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:44119800-44122000	Strong transcription	Esophagus	oesophagus
39	chr6:44119800-44122400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:44119800-44122400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:44119800-44122400	Weak transcription	Ovary	ovary
42	chr6:44119800-44122400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:44119800-44122600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:44119800-44123600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr6:44119800-44123800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:44119800-44123800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:44119800-44124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:44119800-44124800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:44119800-44124800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:44119800-44128400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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